Evolution of hearing in children with congenital cytomegalovirus infection

[ES] Introducción y objetivos: La infección congénita por citomegalovirus (CMV) es la infección vírica congénita más frecuente y la causa más frecuente de hipoacusia neurosensorial congénita adquirida. Objetivo: Evaluar las características y la evolución de la audición en los pacientes diagnosticados de infección congénita por citomegalovirus (CMV). Material y métodos: En un estudio retrospectivo se valoró las características y evolución de la audición de los niños nacidos en nuestro hospital entre los años 2000 y 2010 con infección sintomática congénita por citomegalovirus. Dependiendo de la edad y situación neurológica la evaluación de la audición se realizó mediante audiometría objetiva, audiometría mediante el juego o audiometría convencional. Resultados: Durante el periodo de 2000 a 2010 se han identificado 5 casos de infección congénita sintomática por citomegalovirus (0,025% de recién nacidos), con predominio del sexo femenino (60%). En el 40% de los casos el síntoma de sospecha fue exclusivamente la microcefalia. En ambos casos la audición era normal al nacimiento, presentando uno de los casos hipoacusia profunda de inicio tardío. Un caso (20%) presentó importante afectación neurológica con petequias, hepato-esplenomegalia e hipoacusia neurosensorial profunda. Dos casos fueron grandes prematuros con otros factores de riesgo pero sin afectación auditiva a lo largo del seguimiento. Todos los casos fueron tratados con ganciclovir. Conclusión: Es necesario identificar los pacientes con infección congénita por CMV y realizar un seguimiento auditivo durante los primeros años de vida dada la posibilidad de desarrollo de hipoacusia de inicio tardío. [EN] Introduction and Objectives: Congenital cytomegalovirus infection (CMV) is the most common congenital viral infection and the most common cause of acquired congenital sensorineural hearing loss. Objective: To evaluate the characteristics and evolution of hearing in patients diagnosed with congenital cytomegalovirus (CMV) infection. Methods and materials: In a retrospective study assessed the characteristics and evolution of hearing in children born in our hospital between 2000 and 2010 with symptomatic congenital cytomegalovirus infection. Depending on the age and neurological status, hearing assesment was performed by objective audiometry, audiometry through play or conventional audiometry. Results: During the period of 2000-2010 have been identified 5 cases of symptomatic congenital cytomegalovirus (0.025% of newborns), predominantly female (60%). In 40% of cases was the only symptom suspected microcephaly. In both instances the hearing was normal at birth, presenting one of the cases of late-onset profoundly deaf. One case (20%) had major neurological involvement with petechiae, hepatosplenomegaly and profound sensorineural hearing loss. Two cases were very premature with other risk factors but no hearing impairment. All cases were treated with ganciclovir. Conclusion: It is necessary to identify patients with congenital CMV infection and hearing track during the first years of life due to the possibility of developing late-onset hearing loss

Dermoid cyst with respiratory manifestations

[ES] Introducción: Los quistes dermoides son lesiones congénitas causadas por atrapamiento del ectodermo durante la embriogénesis. Su localización más frecuente son las gónadas y menos del 10% se encuentran en cabeza y cuello. Son de crecimiento lento y en general, se observan entre la segunda y tercera década de la vida, siendo raros en la infancia. Descripción: Se presenta el caso de un varón de 5 años que acude a consulta por presentar infecciones respiratorias recurrentes, respiración bucal y roncopatía con pausas de apnea y somnolencia diurna. En la exploración se detecta hipertrofia amigdalar y una tumoración sublingual de 4 cm. Como pruebas complementarias se realizan una polisomnografía nocturna con un IAH de 18,3/h y una ecografía, informada como lesión quística con múltiples estructuras redondeadas ecogénicas. Resultados: Se diagnostica se SAHS severo y se decide realizar una resección quirúrgica, diagnóstica y terapéutica, completando el tratamiento con una amigdalectomía. Se obtiene el diagnóstico histopatológico de quiste dermoide. En el control postoperatorio se comprueba la resolución de los eventos respiratorios y el ronquido. Discusión: En la cavidad oral (siendo la localización sublingual la más frecuente) representan sólo el 0,01% de todos los quistes y el 1,6% de todos los quistes dermoides. Suelen presentarse como masa asintomática de crecimiento lento, aunque si alcanzan gran tamaño pueden comprometer la deglución, fonación o respiración, pudiendo presentarse, como en nuestro caso, con un SAHS. El tratamiento es quirúrgico, permitiendo confirmar el diagnóstico y evitar el riesgo de complicación infecciosa y su eventual malignización. [EN] Introduction: Dermoid cysts are congenital tumors caused by entrapment of ectoderm during embryogenesis. The most common localization are the gonads and less than 10% are in the head and neck. They are slow growing and generally observed between the second and third decades of life, being unusual in chilhood. Description: We report a case of a 5 year old male with recurrent respiratory infections, mouth breathing and snoring with apneas and daytime sleepiness. On physical examination tonsillar hypertrophy and a 4 cm sublingual tumor are detected. As complementary tests are performed overnight polysomnography with AHI of 18.3 / h and ultrasonography, reported as cystic mass with multiple rounded echogenic structures inside. Results: The patient was diagnosed with severe OSA and tonsillectomy and intraorally enucleation of tumor (as diagnosis and treatment) were performed; with histopathological diagnosis of dermoid cyst. In the postoperative control we check the resolution of respiratory events and snoring. Discussion: Dermoid cysts of the oral cavity (where sublingual localization is the most common) represent only 0,01% of all cysts and 1,6% of all dermoid cysts. Usually present as slow-growing asymptomatic mass, even if they reach large size can compromise swallowing, speech or breathing and eventually cause, as in our case, a severe OSA. The surgical treatment allows to confirm the diagnosis an avoid the risk of infectious complications and eventual malignant transformation

Laryngeal electromyography technique and applications in disorders voice. Our experience

[ES] Introducción y objetivo: La electromiografía laríngea (EMGL) es una técnica que evalúa la integridad del sistema muscular y nervioso de la laringe. Empleada en el diagnóstico, pronóstico y tratamiento de los trastornos del movimiento incluyendo las distonías laríngeas, parálisis de cuerdas vocales, y alteraciones neurológicas. Presentamos la primera serie en nuestra Comunidad Autónoma que describe la utilidad de dicha prueba en la patología vocal. Método: Se realiza un estudio prospectivo con la elaboración de un protocolo para evaluar los trastornos del movimiento vocal que incluye la estroboscopia y la EMGL. En todos los casos se analizaron los músculos cricoaritenoideos y tiroaritenoideos en colaboración con el Servicio de Neurofisiología. Resultados: Presentamos una serie de 7 casos recogidos desde el comienzo de la realización de la prueba en nuestro centro. El 100% eran mujeres y el síntoma predominante fue la disfonía. La sospecha diagnóstica fue de parálisis vocal en el 71% y de disfonía espasmódica en el 29%. Al realizar la EMGL, nos encontramos que el 30% de las parálisis vocales eran fijaciones mecánicas de la laringe. Asimismo, en los 2 casos de disfonías espasmódicas, la EMGL nos sirvió además como herramienta para infiltrar toxina botulínica en las cuerdas vocales. Conclusiones: La EMGL es un procedimiento útil que evalúa el sistema neuromuscular, por lo cual debe considerarse como un estudio complementario al examen físico, y no una herramienta de laboratorio aislada.[EN] Introduction and objective: The laryngeal electromyography (LEMG) is a technique which assesses the integrity of the laryngeal nerves and muscles. It is used in the diagnosis, prognosis and treatment of movement disorders as laryngeal dystonia, vocal cord paralysis and neurological disorders. We describe the first experience in our region about the usefulness of this technique in vocal pathology. Methods: A prospective study was designed to evaluate laryngeal movement disorders with strobe and LEMG. In all of cases, both cricothyroid and thyroarytenoid muscles were tested and the results were interpreted by Neurophysiology department. Conclusions: EMGL is a useful adjunt to evaluate the neuromuscular system, therefore it should be considered as a complementary study and not as an isolated laboratory tool

Metabolic polygenic risk scores effect on antipsychotic-induced metabolic dysregulation: A longitudinal study in a first episode psychosis cohort

[EN] Objective: Metabolic syndrome is a health-threatening condition suffered by approximately one third of schizophrenia patients and largely attributed to antipsychotic medication. Previous evidence reports a common genetic background of psychotic and metabolic disorders. In this study, we aimed to assess the role of polygenic risk scores (PRSs) on the progression of the metabolic profile in a first-episode psychosis (FEP) cohort. Method: Of the 231 FEP individuals included in the study, 192-220 participants were included in basal analysis and 118-179 in longitudinal 6-month models. Eleven psychopathologic and metabolic PRSs were constructed. Basal and longitudinal PRSs association with metabolic measurements was assessed by statistical analyses.Results: No major association of psychopathological PRSs with the metabolic progression was found. However, high risk individuals for depression and cholesterol-related PRSs reported a higher increase of cholesterol levels during the follow-up (FDR <= 0.023 for all analyses). Their effect was comparable to other well-established pharmacological and environmental risk factors (explaining at least 1.2% of total variance).Conclusion: Our findings provide new evidence of the effects of metabolic genetic risk on the development of metabolic dysregulation. The future establishment of genetic profiling tools in clinical procedures could enable practitioners to better personalize antipsychotic treatment selection and dosage

A field portable method for the semi-quantitative estimation of dehydration tolerance of photosynthetic tissues across distantly related land plants.

Preprint sustituido por postprint 9-12-2019Desiccation tolerant (DT) plants withstand complete cellular dehydration (reaching relative water contents below 30% in their photosynthetic tissues), while desiccation sensitive (DS) plants exhibit different degrees of dehydration tolerance (DHT), never surviving water loss >70%. To date, no procedure for the quantitative evaluation of DHT extent exists that is able to discriminate DS species with different degrees of DHT from truly DT plants. We developed a simple, feasible, and portable protocol to differentiate between constitutive DT and different degrees of DHT in photosynthetic tissues. The protocol is based on (i) controlled desiccation inside Falcon tubes equilibrated at three different relative humidities (RH: 80%, 50% and <10%) and (ii) evaluation of the average recovery level of maximal photochemical efficiency (Fv/Fm) after rehydration. Applying the method to 10 bryophytes and 28 tracheophytes from various locations, we found that (i) imbibition of absorbent material with saturated salt solutions inside the tubes provides stable RH and avoids direct contact with samples; (ii) for 50 mL capacity tubes, the optimal initial plant amount is 50–200 mg FW; (iii) the tubes can be re-used up to three times with very little changes in RH; (iv) the method is useful in remote locations due to minimal instrumental requirements; (v) a threshold of 30% recovery of the initial Fv/Fm correctly categorises DT species with a few exceptions among tracheophytes: poikilochorophyllous DT-species and some DS herbs and gymnosperms. The protocol provides a semi-quantitative expression of DHT that facilitates comparisons of species with different morpho-physiological traits and/or ecological attributes.Basque Government (UPV/EHU IT-1018-16); Spanish Ministry of Economy and Competitiveness (MINECO) and the ERDF (FEDER) (CTM2014-53902-C2-2-P to JIGP and BFM, CGL2014-54127-P to ENO and JMA, and CTM2014-53902-C2-1-P to JF and JG); Juan de la Cierva-Incorporation fellowship IJCI-2014-22489 to BFM and Juan de la Cierva-Formación FPDI-2013-18167 and FPDI-2013-17135 to MJCM and JoG respectively); MC was supported by a predoctoral fellowship FPI/1700/2014 from the Conselleria d’Educació, Cultura i Universitats (Govern de les Illes Balears) and ESF; MN was supported by a predoctoral fellowship BES-2015-072578 from the Spanish Ministry of Economy and Competitiveness (MINECO) co-financed by the ESF. APC was supported by Spanish Ministry of Education, Culture and Sport (MECD) fellowship (FPU15/02054). MLP was supported by a pre-doctoral grant from the Basque Government. Authors also wish to thank for giving access to the living plant collection of the Royal Botanic Garden Edinburgh. Jill M. Farrant acknowledges funding from the South African Department of Science and Technology and National Research Foundation (grant number 98406

Good practice regarding smoking cessation management in Spain: Challenges and opportunities for primary care physicians and nurses

INTRODUCTION We analyze the activities carried out by primary care (PC) physicians and nurses with respect to smoking cessation and evaluate their self-reported training, knowledge, and behavior. METHODS A cross-sectional study was conducted including 1514 PC physicians and nurses from June 2016 to March 2017, in Spain. The main variable was Good Practice (GP) in attention to smokers. To identify associated factors, a multilevel logistic regression model was used adjusted for sex, age, type of center, contract, years of employment, tobacco consumption, and self-reported training/knowledge. RESULTS Of the 792 physicians and 722 nurses, 48.6% referred to GP in smoking cessation management. The finding related to: being a non-smoker (OR=1.8; 95% CI: 1.2-2.5) or ex-smoker (OR= 1.4; 95% CI: 1.02-2.1), having a good level of knowledge (OR=1.8; 95% CI: 1.3-2.4) and training (OR=2.4; 95% CI: 1.8-3.2), and, to a lesser extent, being female (OR=1.3; 95% CI: 1.03-1.7), and work experience >10 years (OR=1.4; 95% CI: 1.03-1.9). The main GP barriers were: lack of time (45.5%), organizational problems (48.4%), and 35.4% lack of training. CONCLUSIONS The GP of PC physicians and nurses regarding smoking cessation management is related to being non-smokers or ex-smokers, and having sufficient training and knowledge. Lack of time and organizational problems were considered to be the main barriers. The promotion of training activities in the Spanish National Health Service with the support of scientific societies is required

Al-Bustān. Las fincas aristocráticas y la construcción de los paisajes periurbanos de al-Ándalus y Sicilia

Navarro Palazón, Julio, editorLa presente publicación se enmarca en el Proyecto I+D+i «Almunias medievales en el Mediterráneo: Historia y conservación de los paisajes culturales periurbanos» (PID2019-111508GB-I00, dirigido por Julio Navarro Palazón), del Ministerio de Ciencia e Innovación. Agencia Estatal de Investigación. Proyectos de I+D+i, de los Programas Estatales de Generación de Conocimiento y fortalecimiento Científico y Tecnológico del Sistema de I+D+i y de I+D+i Orientada a los Retos de la Sociedad, del Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020. Esta obra es también un fruto destacado del trabajo realizado en el marco de la Unidad Asociada de I+D+i Patrimonio Cultural Árabe e Islámico, Consejo Superior de Investigaciones Científicas-Universidad de Granada, a través de la Escuela de Estudios Árabes de Granad