Genetics and Epigenetics of Nasal Polyposis: A Systematic Review

[EN] Chronic rhinosinusitis (CRS) is an inflammatory disease of the nose and paranasal sinuses that is often associated with nasal polyposis (CRSwNP) in the most severe cases. As in other complex diseases, genetic factors are thought to play an important role in the risk and development of the disease. Environment may also modulate the epigenetic signature in affected patients. In the present systematic review, we aimed to compile all published data on genetic and epigenetic variations in CRSwNP since 2000. We found 104 articles, 24 of which were related to epigenetic studies. We identified more than 150 genetic variants in 99 genes involved in the pathogenesis of nasal polyposis. These were clustered into 8 main networks, linking genes involved in inflammation and immune response (eg, MHC), cytokine genes (eg, TNF), leukotriene metabolism, and the extracellular matrix. A total of 89 miRNAs were also identified; these are associated mainly with biological functions such as the cell cycle, inflammation, and the immune response. We propose a potential relationship between genes and the miRNAs identified that may open new lines of investigation. An in-depth knowledge of gene variants and epigenetic traits could help us to design more tailored treatment for patients with CRSwNP.Thematic Network of Cooperative Research in Health - RETICS (Red temática de investigación en salud Asma, Reacciones Adversas y Alérgicas, ARADYAL) of the Instituto de Salud Carlos II

Predicting the onset and persistence of episodes of depression in primary health care. The predictD-Spain study: Methodology

Background: The effects of putative risk factors on the onset and/or persistence of depression remain unclear. We aim to develop comprehensive models to predict the onset and persistence of episodes of depression in primary care. Here we explain the general methodology of the predictD-Spain study and evaluate the reliability of the questionnaires used. Methods: This is a prospective cohort study. A systematic random sample of general practice attendees aged 18 to 75 has been recruited in seven Spanish provinces. Depression is being measured with the CIDI at baseline, and at 6, 12, 24 and 36 months. A set of individual, environmental, genetic, professional and organizational risk factors are to be assessed at each follow-up point. In a separate reliability study, a proportional random sample of 401 participants completed the test-retest (251 researcher-administered and 150 self-administered) between October 2005 and February 2006. We have also checked 118,398 items for data entry from a random sample of 480 patients stratified by province. Results: All items and questionnaires had good test-retest reliability for both methods of administration, except for the use of recreational drugs over the previous six months. Cronbach's alphas were good and their factorial analyses coherent for the three scales evaluated (social support from family and friends, dissatisfaction with paid work, and dissatisfaction with unpaid work). There were 191 (0.16%) data entry errors. Conclusion: The items and questionnaires were reliable and data quality control was excellent. When we eventually obtain our risk index for the onset and persistence of depression, we will be able to determine the individual risk of each patient evaluated in primary health car

SATISFACCIÓN DE LOS ALUMNOS DE ENFERMERÍA DE LA UNIVERSIDAD CATÓLICA SAN ANTONIO (UCAM) SOBRE SU FORMACIÓN PRÁCTICA. SEMINARIOS EN SALAS DE DEMOSTRACIONES Y PRÁCTICAS CLÍNICAS

Objective: To know the satisfaction of UCAM nursing students regarding the clinical training included in the practical training they attended during the undergraduate program. Method: A descriptive, observational and transversal study was carried out with nursing students of the Catholic University of San Antonio during the academic years 2004/05 and 2007/08. The studied sample consisted of all the nursing students registered in courses of second and third year with clinical training credits. A closed specific questionnaire of multiple choice was elaborated for the accomplishment of the study. Results:  More than 90% of the students state that seminars improve the clinical training and that the theoretical study of practice seminars is helpful for improving nursing techniques. Techniques learned at seminars meet real assistance. Students of both academic years describe the relation with nurses and clinical mentors at hospitals and health centers as good and very good in more than 90% of the cases. More than 80% of the students consider that clinical mentors have facilitated its integration in working team. Conclusions: It is important that the student satisfaction in internal and external practice training is good and that the relation with clinical mentors is adequate. Regarding the opinion of the students about the clinical mentor management in the Unit of Nursing Practical Training, it was concluded that there are aspects to be improved in which we have already begun to work.Objetivo. Conocer la satisfacción de los alumnos de enfermería de la Universidad Católica San Antonio sobre las prácticas que desarrollan durante su formación de pregrado. Método. Se realizó un estudio descriptivo observacional trasversal realizado en la Diplomatura de Enfermería de la Universidad Católica San Antonio durante los cursos académicos 2004/05 y 2007/08. La población objeto de estudio son todos los alumnos de enfermería matriculados en asignaturas de segundo y tercer curso con créditos prácticos. Para la realización del estudio se elaboró un cuestionario específico cerrado de respuesta múltiple. Resultados. Más del 90% de los alumnos afirman que los seminarios mejoran el inicio de las prácticas clínicas, y que el estudio teórico de los seminarios prácticos es de gran ayuda para mejorar la técnica. Las técnicas aprendidas en los seminarios se corresponden con la realidad asistencial. Los alumnos de ambos cursos académicos califican la relación con los profesionales de los centros sanitarios y socio-sanitarios como buena y muy buena en más de un 90% de los casos. Más del 80% de los alumnos consideran que el profesional – tutor ha facilitado su integración en el equipo de trabajo. Conclusiones. Se puede subrayar que la satisfacción de los alumnos tanto en las prácticas internas y externas es buena y que la relación con los profesionales – tutores es adecuada. En cuanto a la opinión de los alumnos sobre las gestiones que se llevan a cabo desde la Unidad de Prácticas de Enfermería, concluimos que existen aspectos mejorables sobre los que ya hemos comenzado a trabajar.

Reliability and external validity of a questionnaire to assess the knowledge about risk and cardiovascular disease and in patients attending Spanish community pharmacies

© 2016 Elsevier España, S.L.U. Objectives To determine the test-retest reliability of a questionnaire, with a validation preliminary, to assess knowledge of cardiovascular risk (CVR) and cardiovascular disease in patients attending community pharmacies in Spain. To complement the external validity, establishing the relationship between an educational activity and the increase in knowledge about CVR and cardiovascular disease. Design Sub-analysis of a controlled clinical study, EMDADER-CV, in which a questionnaire about knowledge concerning CVR was applied at 4 different times. Location Spanish Community Pharmacies. Participants There were 323 patients in the control group, from the 640 who completed the study. Main measurements Intraclass correlation coefficient to assess the reliability in 3 comparisons (post-educational activity with week 16, post-educational activity with week 32, and week 16 with week 32); and the non-parametric Friedman test to establish the relationship between an oral and written educational activity with increasing knowledge. Results For the 323 patients in the 3 comparisons, the intraclass correlation coefficient values were 0.624; 0.608 and 0.801, respectively (fair-good to excellent reliability). So, the Friedman test showed a statistically significant relationship between educational activity and increased knowledge (p < .0001). Conclusions According to the intraclass correlation coefficient, the questionnaire aimed at assessing the knowledge on CVR and cardiovascular disease has a reliability between acceptable and excellent, which added to the previous validation, shows that the instrument meets the criteria of validity and reliability. Furthermore, the questionnaire showed the ability to relate an increase in knowledge with an educational intervention, feature that complements its external validity

First spectral emissivity study of a solar selective coating in the 150 to 600 C temperature range

A complete experimental study of temperature dependence of the total spectral emissivity has been performed, for the first time, for absorber reflector selective coatings used in concentrated solar power (CSP) systems for energy harvesting. The coating consist of double cermet layers of silicon oxide with different amounts of molybdenum over a silver infrared mirror layer. The experimental measurements were carried out by a high accurate radiometer (HAIRL) with controlled atmosphere in the mid-infrared and for temperatures between 150 and 600 C. The spectral emissivity is nearly constant in this temperature range. Therefore, the temperature dependence of the total emissivity is given by Planck function. These results were compared with those obtained with the usual calculus using room temperature reflectance spectrum. Finally, the performance of the coating was analyzed by comparison of coated respect to non-coated stainless steel.Comment: 6 pages, 10 figure

RTP801 regulates motor cortex synaptic transmission and learning.

BACKGROUND: RTP801/REDD1 is a stress-regulated protein whose upregulation is necessary and sufficient to trigger neuronal death in in vitro and in vivo models of Parkinson's and Huntington's diseases and is up regulated in compromised neurons in human postmortem brains of both neurodegenerative disorders. Indeed, in both Parkinson's and Huntington's disease mouse models, RTP801 knockdown alleviates motor-learning deficits. RESULTS: We investigated the physiological role of RTP801 in neuronal plasticity and we found RTP801 in rat, mouse and human synapses. The absence of RTP801 enhanced excitatory synaptic transmission in both neuronal cultures and brain slices from RTP801 knock-out (KO) mice. Indeed, RTP801 KO mice showed improved motor learning, which correlated with lower spine density but increased basal filopodia and mushroom spines in the motor cortex layer V. This paralleled with higher levels of synaptosomal GluA1 and TrkB receptors in homogenates derived from KO mice motor cortex, proteins that are associated with synaptic strengthening. CONCLUSIONS: Altogether, these results indicate that RTP801 has an important role modulating neuronal plasticity and motor learning. They will help to understand its role in neurodegenerative disorders where RTP801 levels are detrimentally upregulated

Recent advances on information transmission and storage assisted by noise

The interplay between nonlinear dynamic systems and noise has proved to be of great relevance in several application areas. In this presentation, we focus on the areas of information transmission and storage. We review some recent results on information transmission through nonlinear channels assisted by noise. We also present recent proposals of memory devices in which noise plays an essential role. Finally, we discuss new results on the influence of noise in memristors.Comment: To be published in "Theory and Applications of Nonlinear Dynamics: Model and Design of Complex Systems", Proceedings of ICAND 2012 (Springer, 2014

Description of a new case of Bohring-Opitz (or Oberklaid-Danks) syndrome

Dismorfología y Genética ClínicaIn 1999, Bohring et al. reported a new syndrome clinically distinguishable from cases with C syndrome or Opitz trigonocephaly. All the patients showed failure to thrive, microcephaly with metopic suture ridging, nevus flammeus over the forehead, thick hair and forehead hirsutism, shallow orbits with prominent eyes, depressed nasal root, anomalous ears, retrognathia, cleft lip and palate, flexion deformities of the upper limbs with radial head dislocation and ulnar deviation of fingers. Patients have severe developmental delay, sucking and swallowing difficulties starting in the prenatal period, as suggested by the usual polyhydramnios. The brain anomalies include hydrocephaly/large ventricles, agenesis/hypoplasia of corpus callosum, Dandy- Walker malformation, myelin abnormalities, and cortical atrophy. Occasional symptoms are a small or closed fontanel at birth, inguinal hernias and cryptorchidism in males, and intestinal malrotation. Most patients die early in childhood because of bradycardia and apnea. Although there is an overlap between C-like syndrome and C syndrome, different manifestations in these patients suggest a different entity. This new syndrome has been called (apart from C-like syndrome) Bohring-Optiz or Oberklaid-Danks syndrome. Recently, it has been associated in some patients to heterozygous de novo nonsense mutations in ASXL1 gene, which is required for maintenance of both activation and silencing of Hox genes, suggesting that the syndrome is genetically heterogeneous. Here we describe the first case of this syndrome identified in the Spanish Collaborative Study of Congenital Malformations (ECEMC) Registry, and possibly in Spain. Therefore, its minimal frequency has been estimated in 1:2,648,286 newborn infants.N

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Background: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults. The aim of this study was to describe the clinical manifestations of MPS IVA in adult patients in Spain and to assess their health-related quality of life (HRQoL). Results: Thirty-three patients from nine reference centres participated in the study. The median age was 32 (interquartile range [IQR]: 20.5–40.5) years. The phenotype was classical in 54.5% of patients, intermediate in 33.3% of patients, and non-classical in 12.1% of patients. The most common clinical manifestation was bone dysplasia, with a median height of 118 (IQR: 106–136) cm. Other frequent clinical manifestations were hearing loss (75.7%), ligamentous laxity (72.7%), odontoid dysplasia (69.7%), limb deformities that required orthopaedic aids (mainly hip dysplasia and genu valgus) (63.6%), and corneal clouding (60.6%). In addition, 36.0% of patients had obstructive sleep apnoea/hypopnoea syndrome and 33.3% needed non-invasive ventilation. Cervical surgery and varisation osteotomy were the most common surgical interventions (36.4% each). Almost 80% of patients had mobility problems and 36.4% used a wheelchair at all times. Furthermore, 87.9% needed help with self-care, 33.3% were fully dependent, and 78.8% had some degree of pain. HRQoL according to the health assessment questionnaire was 1.43 (IQR: 1.03–2.00) in patients with the non-classical phenotype, but 2.5 (IQR: 1.68–3.00) in those with the classical phenotype. Seven patients were initiated on enzyme replacement therapy (ERT), but two of them were lost to follow-up. Lung function improved in four patients and slightly worsened in one patient. The distance achieved in the six-minute walk test increased in the four patients who could perform it. HRQoL was better in patients treated with elosulfase alfa, with a median (IQR) of 1.75 (1.25–2.34) versus 2.25 (1.62–3.00) in patients not treated with ERT. Conclusions: The study provides real-world data on patients with MPS IVA. Limited mobility, difficulties with self-care, dependence, and pain were common, together with poor HRQoL. The severity and heterogeneity of clinical manifestations require the combined efforts of multidisciplinary teams

Dolor muscular en una mujer de 46 años

A 46-year-old woman presented with weakness, muscular pain and persistent elevations of creatinine kinase. The analysis (including hormones, autoimmunity and serology), magnetic resonance and an electromyogram did not provide a conclusive diagnosis. However, after performing a muscle biopsy, we diagnosed a glycogen storage disease type V (McArdle disease). Glycogenosis occurs in a group of metabolic and genetic diseases characterized by a disorder in the catabolism of glycogen. The McArdle disease is defined by an absence of glycogen phosphorylase, an enzyme that catalyzes the conversion of glycogen to glucose-1-phosphate in muscle tissue.Se presenta el caso de una paciente que consulta por debilidad y dolor muscular de años de evolución junto con elevación persistente de la creatinina cinasa. Los análisis realizados (que incluyeron hormonas, autoinmunidad y serologías), la resonancia magnética y el electromiograma no mostraron resultados concluyentes. Tras la práctica de una biopsia muscular se diagnostica de glucogenosis tipo V (enfermedad de McArdle). Las glucogenosis son un conjunto de enfermedades metabólicas de base genética caracterizadas por un trastorno en el catabolismo del glucógeno. La enfermedad de McArdle se define por la ausencia de la miofosforilasa, una enzima que cataliza la transformación de glucógeno en glucosa-1-fosfato en las fibras musculares esqueléticas, representando una forma de miopatía pura