Assessment of daytime symptoms in snoring subjects and obstructive sleep apnea patients

El síndrome de apnea obstructiva del sueño (SAOS) es un trastorno de la respiración que se produce durante el sueño, caracterizado por episodios repetidos de apnea (cese total del flujo aéreo) o hipopnea (cese parcial) con una duración mínima de 10 segundos. La sintomatología asociada al trastorno es muy variada. La mayoría de los pacientes se queja de problemas cognitivos, dificultades dificultades de concentración, excesiva somnolencia diurna, despertares frecuentes y aumento de la actividad motora durante el sueño, así como de cambios en el estado de humor y en el carácter. De todos los síntomas observados en el trastorno, el ronquido es el rasgo más universal de la apnea del sueño y una de las causas más comunes de referencia para la evaluación del trastorno. Hoy en día se estima que aproximadamente 70% de los pacientes que acude a los laboratorios de sueño padece ronquido, siendo en este grupo además bastante alta la sospecha de un posible diagnóstico de SAOS. Algunos estudios han centrado su interés en evaluar si las personas que manifiestan ronquido crónico muestran algún tipo de sintomatología que pueda utilizarse como medida preventiva para el posterior desarrollo de la apnea del sueño. Aunque los resultados de estos estudios no son muy concluyentes, lo que sí parece confirmarse es que en muchos casos el ronquido puede llegar a producir consecuencias clínicas importantes. Por ello, y con base en la bibliografía revisada, el objetivo de la presente investigación es evaluar si hay o no diferencias en somnolencia diurna, tiempo de reacción, memoria a corto plazo, depresión, ansiedad estadorasgo y neuroticismo entre un grupo de pacientes con SAOS y un grupo de pacientes roncadores crónicos.The obstructive sleep apnea syndrome (OSAS) is a type of sleep disorder that has called the attention of many researchers because of its widespread distribution among middle-aged subjects. The OSAS is a respiratory problem characterized by the existence of apneas, defined as 10 second minimum intervals during which no aerial flux exchange takes place through the upper airways and the hypopneas not characterized by an arrest, but by a reduction of aerial flux through the upper airways. The most widespread index used in the diagnosis of the OSAS severity has been the apnea/hypopnea index (AHI). There is little consensus based on the apnea/hypopnea index regarding the clinical definition of the sleep apnea syndrome, as there is not a single criterion for the categorization of sleep apnea patients into severity levels. Nowadays, it is estimated that about 70% of the patients referred to sleep laboratories suffer from snoring, and it is suspected that they might also suffer from sleep apnea. Obstructive sleep apnea patients may suffer from memory and cognitive problems, excessive daytime sleepiness, as well as mood disturbance, among other symptoms. Additionally, this disorder has severe medical and social consequences. One of the most characteristic symptoms in sleep apnea is snoring. Although snoring is one of the symptoms of sleep apnea, it should be remembered it is a typical phenomenon among population in general. There is a primary kind of snoring, the most frequent type in less severe cases, which even occurs among the normal population. In this case, the noise accompanying inspiration is made with almost every breath. Secondly, there is another kind of snoring that is either intermittent or cyclic, and snoring does not come with every breath but silent periods are also frequent. The latter indicates apnea. A considerable number of epidemiological studies regarding snoring have been produced of late. Several of them have concluded that snoring may have severe clinical consequences. Most patients suffering from obstructive sleep apnea start having simple snores. In the last decade there has been a marked increase of patients who manifest respiratory disorders related to sleep who do not fall into the category of apnea patients. Nevertheless, the morbidity of these clinical disorders is not yet known, a circumstance that makes treatment more difficult. Only a reduced number of studies have tried to find out whether snorers show any kind of symptoms that could be used as a preventive measure against the development of sleep apnea. For all the previous reasons, the aim of this study is to assess whether there are any differences in daytime sleepiness, reaction time, short-term memory, depression, trait anxiety, state anxiety and neuroticism between a group of patients with obstructive sleep apnea and a group of snoring individuals who had not been diagnosed as suffering from OSAS

Lipodystrophy-associated progeroid syndromes

This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: http://dx.doi.org/10.1007/s42000-022-00386-7With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is not generally recovered. As a consequence, an ectopic deposition of lipids frequently occurs, which usually leads to insulin resistance, atherogenic dyslipidemia, and hepatic steatosis. These disorders include certain accelerated aging syndromes or progeroid syndromes. Even though each of them has unique clinical features, most show common clinical characteristics that affect growth, skin and appendages, adipose tissue, muscle, and bone and, in some of them, life expectancy is reduced. Although the molecular bases of these Mendelian disorders are very diverse and not well known, genomic instability is frequent as a consequence of impairment of nuclear organization, chromatin structure, and DNA repair, as well as epigenetic dysregulation and mitochondrial dysfunction. In this review, the main clinical features of the lipodystrophy-associated progeroid syndromes will be described along with their causes and pathogenic mechanisms, and an attempt will be made to identify which of López-Otín’s hallmarks of aging are present.This work was supported by the Instituto de Salud Carlos III and the European Regional Development Fund (ERDF (grant number PI081449), and an intramural grant from the Xunta de Galicia (GPC2014/036, ED341b 2017/19, ED431B 2020/37). A.F.-P. is a Rio Hortega researcher (ISCIII; CM20/00155). S.S.-I. was awarded a Research Fellowship from the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP).S

Evaluación de la memoria a corto plazo en pacientes con apnea del sueño antes y después del tratamiento con CPAP

El síndrome de apnea obstructiva del sueño (SAOS) es un trastorno que se caracteriza por una obstrucción de la vía respiratoria aérea superior durante el sueño aun cuando existe un adecuado esfuerzo respiratorio. Esta obstrucción dificulta la respiración provocando entre otros síntomas, sueño fragmentado y pérdida o supresión de las fases de sueño más profundas. Durante el día, la persona se queja de una sintomalogía muy variada, en la que destacan principalmente la excesiva somnolencia diurna y los cambios en el estado de ánimo y en la función cognoscitiva. Por lo que respecta al funcionamiento cognoscitivo, se ha observado un déficit de memoria a corto plazo, en el aprendizaje verbal, la percepción, el pensamiento y la comunicación. También se observa un déficit en las funciones ejecutivas. En la actualidad, la Presión Nasal Positiva Continua (CPAP) constituye el tratamiento estándar para este tipo de pacientes. Diversos estudios han evaluado la eficacia del tratamiento en la sintomatología del SAOS, aunque los resultados no han sido muy concluyentes. Es decir que se han identificado casos en los que algunos pacientes presentaron mejoría significativa en algunas funciones cognoscitivas, en tanto que en otros no se observaron estas mejorías a pesar de la disminución observada en sus niveles de somnolencia diurna. Por ello en el presente estudio y con base en los resultados de estudios previos analizados, el objetivo fue evaluar los efectos de la CPAP en la memoria a corto plazo en pacientes con SAOS, después de un mes de tratamiento. Material y método Sujetos La muestra estuvo compuesta por 44 pacientes (42 hombres y 2 mujeres) con SAOS, que fueron seleccionados en un centro hospitalario. El rango de edad oscilaba entre 30 y 65 años. En todos los pacientes se empleó la CPAP como tratamiento. Instrumentos Para establecer el diagnóstico de SAOS se realizó una poligrafía cardiorrespiratoria de todas las horas de sueño(MODELO SEFAM U-280). Este procedimiento, incluye un registro del electrocardiograma, movimientos torácicos y abdominales, flujo aéreo a través de la nariz y la boca y nivel de saturación de oxígeno en la sangre. La prueba de dígitos del WAIS (orden directo e inverso) se utilizó para evaluar la memoria a corto plazo. Para el tratamiento del trastorno se emplearon el Sistema CPAP Nasal SULLIVAN V y el Sistema CPAP PV 100. Procedimiento Todos los pacientes recibieron diagnóstico y tratamiento en la unidad de sueño perteneciente a un centro hospitalario. A cada paciente, se le practicó un examen y se le hizo una entrevista médica con el objetivo de recabar algunos datos de especial relevancia para el diagnóstico del trastorno. Finalizada la exploración, se citó al paciente para dormir esa noche en la unidad de sueño donde se le realizaría la primera poligrafía cardiorrespiratoria. El registro se iniciaba aproximadamente a las 11:30 p.m. y finalizaba a las 7:30 a.m. con lo que se registraban 8 horas de sueño. A la mañana siguiente se analizaban los resultados obtenidos en el registro para determinar tanto si el paciente presentaba o no apnea obstructiva del sueño, así como la gravedad del trastorno. Se seleccionó como sujetos del estudio a todos aquellos pacientes que presentaron un índice de apnea-hipopnea superior a 10 y en quienes se había instaurado la CPAP como alternativa terapeútica. Como criterio de exclusión, se estableció la manifestación de alguna enfermedad psiquiátrica pasada o presente, que de alguna manera pudiera influir en el funcionamiento psicológico del paciente.Obstructive Sleep Apnea Syndrome (OSAS) is a disorder characterized by an obstruction in the upper respiratory airway during sleep. This obstruction provokes a series of complete respiratory pauses (apneas) or partial respiratory pauses (hypopnea) of a duration surpassing 10 seconds, along with a reduction in the arterial oxygen saturation. During sleep, the presence of awakenings, loud snoring, as well as a loss or suppression of the most profound sleep phases (phases III and IV of NREM sleep and REM phase) take place. During the day, the patient exhibits a very varied range of symptoms which affects his daytime functioning. Specifically, the most significant symptoms are excessive daily somnolence, changes in mood and cognitive functioning, fatigue, irritability, cephaleas, etc. It is estimated that OSAS affects 2-4% of the general adult population. It mainly affects middle-aged males. A very high percentage of patients are obese, snorers, as well as habitual consumers of alcohol, tobacco and hypnotic sedatives before sleep, etc. OSAS is one of the disorders which most deteriorates the cognitive execution of patients, where deficits in short term memory, verbal training, perception, thinking and communication are observed, as well as a deficit in the so-called executive functions, and in this process a significant decrease in the ability to initiate new mental processes, a tendency to commit persistent errors and a deterioration in cognitive processes of planification and execution are the main symptoms observed. It has been considered that the possible factors responsible for these cognitive deficits are both, the lack of oxygen during sleep and excessive daytime somnolence. Nowadays, Continuous Positive Airway Pressure: CPAP is the treatment most used for this sleep disorder. The functioning of CPAP consists in administering a continuous air flow, higher than the environmental pressure, on the upper respiratory airway, by means of a nasal mask. This pressure avoids obstruction of the upper respiratory airway, which allows patients to sleep without experiencing sleep interruptions. The level of pressure necessary to achieve this objective must be determined individually for each patient during the nocturnal sleep recording. Diverse studies have evaluated the efficacy of treatment in the symptomology of OSAS, although the results are not conclusive; in other words, cases have been identified in which patients have improved significantly in some cognitive functions, whilst in others, these improvements were not observed in spite of the decrease found in levels of daytime somnolence. Therefore, in this study, and in regard to the results of previously analysed studies, the objective was to evaluate the effects of CPAP on the short term memory of patients with OSAS after a month of treatment

Sarcomas de partes blandas. Análisis de 42 casos

El objetivo de este estudio es valorar el pronóstico a largo plazo de una serie de pacientes tratados en nuestro hospital en relación con diversos factores clínicos, diagnósticos y terapéuticos que podrían condicionarlo. Se revisaron 123 pacientes tratado por tumores malignos de partes blandas entre los años 1979 y 1999, de estos solo 42 cumplieron las características para incluirles en nuestro estudio. Se valoró su evolución teniendo en cuenta las variables pronosticas identificadas en trabajos previamente publicados y nuestra propia experiencia y se realizó el estudio estadístico de las mismas. En el análisis estadístico del estudio se utilizó el programa SPSS versión 8.0WIN y se realizó el análisis de supervivencia mediante el método de Kaplan-Meier. El tiempo de supervivencia total descrito según este método para el total de los casos estudiados presenta una mediana de 33 meses con un error estándar de 8 y un intervalo de confianza del 95% de (17,49), el tiempo libre de enfermedad presenta una mediana de 9 meses con un error estándar de 2 y un intervalo de confianza del 95% de (6,12) y el tiempo de aparición de metástasis presenta una mediana de 26 meses con un error estándar de 5 y un intervalo de confianza del 95% de (17,35). A su vez se realizó el análisis bivariante de las múltiples variables pronosticas. El gran número de variables y la dispersión de la muestra hacen aconsejable estudios multicéntricos prospectivos más numerosos para obtener conclusiones definitivas sobre este tipo de tumores.The aim of this study is to evaluate the long-term prognosis of a series of patients treated in our hospital with regard to various clinical, diagnostic and therapeutic factors. A total of 123 patients who had been treated for malignant soft tissue tumours between 1979 and 1999 were reviewed. Of these, only 42 fulfilled the requirements to be included in our study. The outcome was evaluated taking into account prognostic variables identified in previously published studies and our own experience, and a statistical study of these factors as carried out with the Kaplan-Meier survival analysis method. The total survival time for all the cases studied was 33+8 (median + SE) months with a 95% confidence interval of 17.49 months. The time free of illness was 9+2 (median + SE) months with a 95% confidence interval of 6.12 months. The time-period until metastasis appeared was 26+5 (median + SE) months with a 95% confidence interval of 17.35 months. At the same time, the bivariant analysis of the many prognostic variables was performed. The high number of variables and the dispersion of the sample group suggest that it would be advisable to carry out more prospective, multicentric studies to reach definitive conclusions about this type of tumour

Interferometría diferencial como herramienta para el estudio localizado de la erosión por escorrentía

Las nuevas misiones espaciales como la Sentinel-1 (Proyecto Copernicus de la Agencia Espacial Europea en colaboración con la Comisión Europea) son capaces de obtener imágenes SAR (Synthetic Aperture Radar) con una alta frecuencia, resolución, cobertura y, sobre todo, disponibilidad, lo cual permite la aplicación de técnicas como la interferometría diferencial en nuevos ámbitos.La técnica de interferometría se basa en la medición precisa del viaje de ida y vuelta de la radiación electromagnética entre un radar de apertura sintética y la superficie terrestre, registrando la intensidad y la fase de la radiación retornante en imágenes SAR. Mediante la comparación de dos imágenes SAR de una misma área de la superficie terrestre se puede generar un interferograma en donde la información de la diferencia de fase está altamente relacionada con la topografía del terreno, y las deformaciones del mismo pueden ser representadas gráficamente, en forma de mapas.El objetivo del presente estudio es analizar la posible aplicación de la técnica de la interferometría diferencial para el estudio localizado de la erosión superficial debido a fenómenos de escorrentía, estudiando los parámetros de cálculo, las limitaciones de aplicación y la interpretación de los resultados.En una primera fase se realizó un estudio cuantitativo contrastando las deformaciones registradas mediante interferometría diferencial con las registradas mediante un LIDAR terrestre (el sistema más preciso disponible actualmente), concluyendo la suficiente capacidad del sistema para medir pequeñas erosiones.En una segunda fase se ha realizado un estudio cualitativo en una cuenca agrícola monitorizada (eminentemente cerealista) en Daganzo de Arriba (Madrid) con resultados que muestran una erosión proporcional a la intensidad de lluvia, a la cobertura del suelo en el momento de la precipitación y acorde con lo observado durante las inspecciones visuales. Además, se ha observado que no existe interferencia en los resultados debido a actividades agrícolas que alteran la altura del cultivo como puede ser la cosecha.  Palabras clave: Sentinel, Copernicus, SAR, erosión superficial

Clinical characterisation and comorbidities of acquired generalised lipodystrophy: a 14-year follow-up study

Acquired generalised lipodystrophy (AGL) is a rare disorder characterised by the gradual loss of fat that tends to generalise over time, the origin of which is still not fully clarified. The aim of this study was to offer a detailed description of seven patients with AGL (five women, 33.8 ± 18.6 years of age), evaluated over the last 14 years, in order to augment the knowledge of this disorder. The onset of the phenotype occurred during childhood and adolescence in five cases, and in adulthood in two cases. Three patients reported infections or vaccine administration prior to the development of lipodystrophy, and two subjects reported nodular swelling. The most frequent physical features were phlebomegaly, umbilical protrusion/hernia, and acanthosis nigricans. Skinfolds and body composition analysis showed the generalised absence of fat, with the exception of one patient in whom fat loss was spared in the trunk. The loss of fat in the palms/soles was observed in five subjects. Regarding metabolic comorbidities, throughout follow-up, two patients developed type 1 diabetes and one type 2 diabetes; three also presented hypertriglyceridaemia, one of whom developed acute pancreatitis, and no macrovascular complications were observed. Only one patient showed decreased complement C4. Autoimmunity was present in all cases, and six patients manifested Hashimoto’s thyroiditis, type 1 diabetes, autoimmune hepatitis, and/or celiac disease. Thus, there are certain clinical characteristics of AGL that may be considered important diagnostic criteria to differentiate this disorder from other lipodystrophy subtypesThis study was supported by the Instituto de Salud Carlos III (grant PI22/00514), co-funded by the European Union, and an intramural grant from the Xunta de Galicia, ED431B 2020/37. A.F.-P. receives funding from the Fundación Alfonso Martín Escudero. S.S.-I. was awarded a Research Fellowship, granted by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP)S

Clinical spectrum of LMNA-associated type 2 familial partial lipodystrophy: a systematic review

Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of this review was to explore the published data regarding the clinical characterisation of this syndrome in order to better describe FPLD2. For this purpose, a systematic review through a search on PubMed until December 2022 was conducted and the references of the retrieved articles were also screened. A total of 113 articles were included. FPLD2 is characterised by the loss of fat starting around puberty in women, affecting limbs and trunk, and its accumulation in the face, neck and abdominal viscera. This adipose tissue dysfunction conditions the development of metabolic complications associated with insulin resistance, such as diabetes, dyslipidaemia, fatty liver disease, cardiovascular disease, and reproductive disorders. However, a great degree of phenotypical variability has been described. Therapeutic approaches are directed towards the associated comorbidities, and recent treatment modalities have been explored. A comprehensive comparison between FPLD2 and other FPLD subtypes can also be found in the present review. This review aimed to contribute towards augmenting knowledge of the natural history of FPLD2 by bringing together the main clinical research in this fieldThis research was funded by the Instituto de Salud Carlos III (ISCIII) through the projectPI22/00514 and cofunded by the European Union, and an intramural grant from the Xunta de Galicia (grant number ED431B 2020/37). A.F.-P. is a Rio Hortega researcher (ISCIII; CM20/00155). S.S.-I. was awarded a Research Fellowship by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP)S

COLLECE 2.0: Un sistema para el aprendizaje colaborativo de la programación sobre Eclipse, con una metáfora multidimensional para la visualización de programas

La programación de ordenadores es una tarea compleja y un reto para los estudiantes principiantes. Son numerosas las dificultades para entender los conceptos de programación debido al alto nivel de abstracción que requiere su aprendizaje. Con el propósito de contribuir a paliar estas dificultades, hemos desarrollado el sistema COLLECE-2.0, un plug-in para la plataforma Eclipse, que proporciona un entorno colaborativo de programación, distribuido y en tiempo real. Su interfaz ha sido diseñada para potenciar los aspectos relacionados con el soporte al aprendizaje en grupo. Además, nuestra propuesta hace un especial énfasis en la visualización de los programas, incorporando un conjunto de representaciones gráficas multidimensionales basadas en una metáfora. Estas representaciones son aplicables a una variedad de escenarios que soportan diferentes mecanismos de interacción, dependiendo de la dimensionalidad de las representaciones gráficas y de los dispositivos empleados para su visualización. En este artículo se describen los detalles fundamentales del sistema COLLECE-2.0 y cómo pude emplearse en distintos escenarios, para visualizar e interactuar con aspectos estructurales de los programas y algoritmos.Computer programming is a complex task and a challenge for novice programmers. There are a wide range of difficulties in understanding programming concepts due to the high level of abstraction required to learn them. In order to address these difficulties, we have developed the COLLECE-2.0 system, a plug-in for the Eclipse platform, which provides a real-time, distributed, collaborative programming environment. Its interface has been designed to enhance aspects related to support for group learning. In addition, our proposal makes a special emphasis on the program visualization, incorporating a set of multidimensional graphic representations based on a metaphor. These representations are applicable to a variety of scenarios that support different interaction mechanisms, depending on the dimensionality of the graphic representations and the devices used for their visualization. This paper describes the main details of the COLLECE-2.0 system and how it can be used in different scenarios by visualizing and interacting with structural aspects of the programs and algorithms.Este trabajo ha sido financiado por el Ministerio de Economía, Industria y Competitividad y por el Fondo Europeo de Desarrollo Regional, con referencia TIN2015-66731-C2-2-R

Variable expressivity in type 2 familial partial lipodystrophy related to R482 and N466 variants in the LMNA gene

Patients with Dunnigan disease (FPLD2) with a pathogenic variant affecting exon 8 of the LMNA gene are considered to have the classic disease, whereas those with variants in other exons manifest the “atypical” disease. The aim of this study was to investigate the degree of variable expressivity when comparing patients carrying the R482 and N466 variants in exon 8. Thus, 47 subjects with FPLD2 were studied: one group of 15 patients carrying the N466 variant and the other group of 32 patients with the R482 variant. Clinical, metabolic, and body composition data were compared between both groups. The thigh skinfold thickness was significantly decreased in the R482 group in comparison with the N466 group (4.2 ± 1.8 and 5.6 ± 2.0 mm, respectively, p = 0.002), with no other differences in body composition. Patients with the N466 variant showed higher triglyceride levels (177.5 [56–1937] vs. 130.0 [55–505] mg/dL, p = 0.029) and acute pancreatitis was only present in these subjects (20%). Other classic metabolic abnormalities related with the disease were present regardless of the pathogenic variant. Thus, although FPLD2 patients with the R482 and N466 variants share most of the classic characteristics, some phenotypic and metabolic differences suggest possible heterogeneity even within exon 8 of the LMNA gene.This study was supported by the Instituto de Salud Carlos III and the European Regional Development Fund, ERDF (grant no. PI081449), and an intramural grant from the Xunta de Galicia, ED431B 2020/37. S.S.-I. was awarded a Research Fellowship, granted by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP).S