The Relation of CFTR-Genotype and Associated Comorbidities to Development of Pulmonary Atelectasis in Cystic Fibrosis Patients

No disponible

Earthquakes and entropy: Characterization of occurrence of earthquakes in southern Spain and Alboran Sea.

We propose the use of entropy, H, as an indicator of the equilibrium state of a seismically active region (seismic system). The relationship between an increase in H and the occurrence of a great earthquake in a study area can be predicted by acknowledging the irreversible transition of a system. From this point of view, the seismic system evolves from an unstable initial state (due to external stresses) to another, where the stresses have dropped after the earthquake occurred. It is an irreversible transition that entails an increase in entropy. Five seismic episodes were analyzed in the south of the Iberian Peninsula, the Alboran Sea (Mediterranean Sea), and the North of Morocco: two of them of moderate-high magnitude (Al Hoceima, 2004 and 2016) and three of them of moderate-low magnitude (Adra, 1993-1994; Moron, 2007; and Torreperogil, 2012-2013). The results are remarkably in line with the theoretical forecasts; in other words: an earthquake, understood as an irreversible transition, must suppose an increase in entropy.

Delimitation of the upstream region of NFKBIA gene associated with HTLV-1-associated myelopathy/tropical spastic paraparesis using candidate Tag-SNPs in Peruvian HTLV-1 infected individuals.

In Peru, it is estimated that about 150 000-400 000 people carry the Human T-lymphotropic virus 1 (HTLV-1). Only 10% of HTLV-1 carries develop complications related to HTLV-1. HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic disabling inflammatory disease affecting the spinal cord. HAM/TSP produces principally weakness in the lower limbs and bladder disturbances, among other complications. In a previous study, our group identified three SNPs (rs3138053, rs2233406, and rs3138045) located in the promoter region of the NFKBIA gene associated with HAM/TSP. This study aimed to analyze the association between four Tag-SNPs (rs10148482, rs17103274, rs17103282, and rs762009) located in the upstream region of the NFKBIA gene and HAM/TSP, and to delimit the linkage disequilibrium zone in the upstream region of the NFBKIA gene associated with HAM/TSP. The tetra-primers ARMS-PCR technique was used to genotype 4 Tag-SNPs on 140 HAM/TSP patients and 258 asymptomatic carriers. The SNP rs17103282 showed a deviation from Hardy-Weinberg equilibrium (p < .0001). Neither of three Tag-SNPs showed an association with HAM/TSP (P > .05). No linkage disequilibrium between four Tag-SNPs evaluated in this study and previous ones was observed. Here we show the region located in the upstream region of the NFKBIA gene highly associated with HAM/TSP disease in patients infected with HTLV-1 from Lima, Peru.

Enfermedad pulmonar intersticial difusa por metaplasia peribronquiolar / Diffuse interstitial lung disease related to peribronchiolar metaplasia

Introducción: Las enfermedades pulmonares intersticiales son un grupo de afecciones raras con una importante morbimortalidad. La metaplasia peribronquiolar, también conocida como lambertosis, es un hallazgo histológico inespecífico que puede encontrarse en estas patologías. Caso clínico: Se presenta el caso clínico de un niño con dificultad respiratoria y necesidad de oxigenoterapia suplementaria desde el periodo de lactancia. Se observó un infiltrado alvéolo-intersticial en la tomografía computarizada de tórax, por lo que ante la clínica y la imagen, la sospecha diagnóstica fue de neumopatía intersticial. La primera biopsia pulmonar no mostraba alteraciones. Al inicio recibió tratamiento con corticoides sistémicos y broncodilatadores de mantenimiento. Con una evolución clínica fluctuante y debido a la persistencia de las necesidades de oxígeno, se realizó una segunda biopsia pulmonar, cuyos hallazgos eran compatibles con una lambertosis. Finalmente el paciente inició tratamiento con hidroxicloroquina. En la actualidad realiza una vida prácticamente normal y sólo precisa oxígeno domiciliario en escasas ocasiones. Discusión: En este paciente, dada la clínica y la imagen compatibles, el resultado normal de la biopsia no descartó en un principio la patología intersticial. En los adultos la lambertosis se ha asociado con el tabaco y los agentes infecciosos, mientras que en los niños parece estar relacionada con causas genéticas. Se llevó a cabo un tratamiento con corticoides y, en segunda línea, con hidroxicloroquina. Conclusiones: Aunque el diagnóstico definitivo de la metaplasia peribronquiolar es histológico, un resultado normal en la biopsia no descarta una posible enfermedad intersticial. Son necesarios más ensayos clínicos que definan el tratamiento más apropiado en estos pacientes

Introduction: Interstitial lung diseases are a group of rare diseases related to important morbidity and mortality. Peribronchiolar metaplasia, also known as lambertosis, could be found in some of these illnesses. Clinical case: We present a child with respiratory symptoms and need of oxygen since he was an infant. An interstitial alveolar infiltrate was seen in the computarized tomography. According to the clinic and imaging, the first diagnostic approach was an interstitial lung disease. The first lung biopsy was normal. He initially received treatment with cortico-steroids and bronchodilators during years, with no clear improving. A second lung biopsy was performed in which we found changes compatible with lambertosis. Finally, he started treatment with hidroxychloroquine and currently he has a normal life and rarely needs oxygen at home. Discussion: In our patient, despite the normal result of lung biopsy, the diagnosis of interstitial lung disease was not discarded because of the suggestive symptoms, signs and imaging tests. Lambertosis in adults is related to tobacco and infectious agents, but in children genetics seem to be important. The initial treatment were corticosteroids and then hidroxychloroquine. Conclusions: Although the diagnosis is histopathological, a normal lung biopsy does not discard an interstitial lung dis-ease. There is need of more clinical trials to establish the appropriate treatment for these patients

Características de las atelectasias como complicación pulmonar en la fibrosis quística / No disponible

Objetivos: Determinar la prevalencia de las atelectasias en la fibrosis quística (FQ) en la Comunidad de Madrid, con el fin de encontrar factores de riesgo predisponentes. Material y métodos. Se ha llevado a cabo un estudio retrospectivo en las unidades de FQ de la Comunidad de Madrid, de aquellos que habían padecido atelectasias. Se estudiaron: infecciones, complicaciones pulmonares y comorbilidades, tratamiento previo y posterior, el empleo de la fibrobroncoscopia y su respuesta, el diagnóstico mediante tomografía computarizada (TC) y la resolución o no de la atelectasia. Resultados: 16 (2,66%) pacientes habían padecido atelectasias, siete hombres (43,8%), con una edad media a la primera atelectasia de 23,81 ± 11,2 años. 14 (87,5%) presentaron infección bronquial crónica (IBC), especialmente por S. aureus meticilin-sensible y P. aeruginosa. Tres (18,8%) habían padecido aspergilosis broncopulmonar alérgica (ABPA) y uno hemoptisis (6,3%) con embolización. No hubo diferencias significativas en los tratamientos usados antes y después. En 10 (62,5%) se realizó fibrobroncoscopia, mejorando ocho pacientes. La TC demostró mejoría radiológica en un 62,5%, completa en siete pacientes. Hubo diferencias significativas entre FEV1/FVC, FEV1 y FVC en la evolución de los pacientes; entre el número total de exacerbaciones del año previo y del posterior (p= 0,012) y entre las exacerbaciones graves del año previo y las últimas registradas (p= 0,013). Cinco (31,25%) tuvieron una evolución tórpida tras el evento. Conclusiones: Una función pulmonar con obstrucción moderada-grave, y haber padecido otras complicaciones respiratorias (ABPA y IBC) podrían predisponer a padecer atelectasias en FQ. Además, esta complicación empeora las exacerbaciones y la función pulmonar

Aim: To determine the prevalence of atelectasis in cystic fibrosis (CF) in Madrid Community, in order to find predisposing risk factors. Material and methods. A retrospective study in the CF Units of Madrid Community was carried out, of the patients who suffered atelectasis We studied: infections, pulmonary complications and comorbilities, prior and subsequent treatment, the use of broncoschopy and its results; the diagnosis using computed tomography (CT), and the resolution or not the atelectasis. Results: 16 (2,66%) patients has suffered atelectasis (2,66%), 7 males (43,8%) with a mean aged with the first atelectasis was 23,81 ± 11,2 year-old 14 (87,5%) presented chronic bronchial infection (CBI), specially by meticillinsensitive S and P. aeruginosa. Three (18,8%) had suffered allergic bronchopulmonary aspergillosis (ABPA) and one (6,3%) haemoptysis with embolization. There were no significant differences with prior and subsequent treatment. A bronchoscopy was performed in 10 patients (62,5%): improving in eight cases. A radiological improve was observed using a CT in 10 (62,5%) patients, complete in seven patients. We have found significant differences in FEV1/FVC, FEV1 and FVC, in the evolution of the patients; between the total number of exacerbations of the previous year and the following one. Five (31.25%) had a torpid evolution after the event. Conclusions: Pulmonary function with moderate to severe obstruction and other respiratory complications (ABPA and CBI) may predispose to atelectasis in CF. In addition, this complication worsens exacerbations and pulmonary function

Multifractal Downscaling of Rainfall Using Normalized Difference Vegetation Index (NDVI) in the Andes Plateau.

In this paper, a multifractal downscaling technique is applied to adequately transformed and lag corrected normalized difference vegetation index (NDVI) in order to obtain daily estimates of rainfall in an area of the Peruvian Andean high plateau. This downscaling procedure is temporal in nature since the original NDVI information is provided at an irregular temporal sampling period between 8 and 11 days, and the desired final scale is 1 day. The spatial resolution of approximately 1 km remains the same throughout the downscaling process. The results were validated against on-site measurements of meteorological stations distributed in the area under study.

Sección de Neumología Pediátrica del Hospital General Universitario Gregorio Marañón / Pediatric Pneumology section of the Hospital General Universitario Gregorio Marañón

En este documento resumimos cómo entendemos que debe ser la atención sanitaria a la población pediátrica con patología respiratoria, liderada por un servicio altamente especializado que atienda adecuadamente la vertiente asistencial, y de respuesta a la demanda docente (pre y postgrado) e investigadora—innovadora propias de un centro de tercer nivel y alta complejidad; todo ello bajo estándares de calidad y controles externos como es el caso del laboratorio de función pulmonar acreditado según Norma ISO 9001 y de las Consultas externas a las que se va a ampliar el alcance de dicha certificación. Se describen la Misión, Visión y Valores; los objetivos asistenciales, sociales y de docencia e investigación y las líneas estratégicas de Gestión Clínica de la Sección de Neumología Pediátrica (Pacientes/Profesionales/Procesos/Alianzas Estratégicas/Calidad Asistencial). A continuación, se describe la Cartera de Servicios, la Estructura y los Recursos (humanos y materiales) con los que cuenta nuestra Sección, para desarrollar una actividad orientada a la humanización de todo el proceso asistencial del paciente pediátrico con patología respiratoria, siguiendo la línea estratégica del Servicio Madrileño de Salud. Por último, hacemos referencia a los Programas Específicos de Gestión — Áreas de Mejora, a medio y largo plazo, que permitan consolidarnos como una Sección de Neumología Pediátrica referente en nuestro ámbito (AU)

With this document we aim to show what we believe health care for the pediatric population who suffer respiratory pathology should be like; it should be led by highly specialized personnel Who can attend to the patients, and should be able to handle the demand for educational health-oriented work placements (pre and post—graduate) as well as the demand for investigation and innovation which are part and parcel of a highly complex and third level centre. All of this should be enveloped in high level of quality and external controls as is the case of the lung function laboratory accredited by Norma ISO 9001 and the Outpatient Clinics which will also be included by the same certificate. We outline our mission, our vision our values; the objectives for patient attendance, and as social, teaching and investigative objectives and the strategies for Clinical management within the Pediatric Pneumology Unit (Patients/Professionals/Processes/ Strategic Allíances/Healthcare Quality management). We continue by describing the full list of services we offer, in order to develop an activity which is oriented to the humanization of the attendance process for the pediatric patient with respiratory problem, in line with the Madrid Health Service Strategies. Finally, we make reference to specific Management Programmes - areas in which we can improve, in the medium to long-term, which will allow us to consolidate our position as the Pediatric Pneumology Unit of reference in our field (AU)

Protocolo de seguimiento de los pacientes con displasia broncopulmonar / Guidelines for the follow up of patients with bronchopulmonary dysplasia

La displasia broncopulmonar (DBP) es la secuela más prevalente del recién nacido pretérmino, y sigue suponiendo un motivo frecuente de consulta en las unidades de Neumología Pediátrica. La decisión del alta de la unidad neonatal debe apoyarse en una valoración exhaustiva de la situación clínica del paciente y en el cumplimiento de unos requisitos, que incluyen la estabilidad respiratoria y nutricional, y la instrucción a los cuidadores en el manejo domiciliario. Para un control adecuado de la enfermedad, es necesario que quede establecido, previamente al alta, un calendario de visitas y de exploraciones complementarias, y deben aplicarse las pautas de prevención de exacerbaciones y el tratamiento apropiados. El concepto de DBP como enfermedad multisistémica es fundamental en el seguimiento de los pacientes y debe ser tenido en cuenta para un buen control de la enfermedad. En este documento, el Grupo de Trabajo de Patología Respiratoria Perinatal de la Sociedad Española de Neumología Pediátrica propone un protocolo que sirva como referencia para unificar el seguimiento de los pacientes con DBP entre los diferentes centros y ámbitos asistenciales. Se revisan los aspectos a tener en cuenta en la evaluación previa al alta de la Unidad Neonatal y las principales complicaciones durante el seguimiento. Seguidamente, se detallan las recomendaciones en materia de tratamiento de la enfermedad y prevención de complicaciones, los controles tras el alta y su cronología

Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth, and remains a major problem in pediatric pulmonology units. The decision of discharging from the Neonatal Unit should be based on a thorough assessment of the condition of the patient and compliance with certain requirements, including respiratory and nutritional stability, and caregiver education on disease management. For proper control of the disease, a schedule of visits and complementary tests should be established prior to discharge, and guidelines for prevention of exacerbations and appropriate treatment should be applied. In this paper, the Working Group in Perinatal Respiratory Diseases of the Spanish Society of Pediatric Pulmonology proposes a protocol to serve as a reference for the follow up of patients with BPD among different centers and health care settings. Key factors to consider when planning discharge from the Neonatal Unit and during follow up are reviewed. Recommendations on treatment and prevention of complications are then discussed. The final section of this guide aims to provide a specific schedule for follow-up and diagnostic interventions to be performed in patients with BPD

[Guidelines for the follow up of patients with bronchopulmonary dysplasia]. / Protocolo de seguimiento de los pacientes con displasia broncopulmonar.

Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth, and remains a major problem in pediatric pulmonology units. The decision of discharging from the Neonatal Unit should be based on a thorough assessment of the condition of the patient and compliance with certain requirements, including respiratory and nutritional stability, and caregiver education on disease management. For proper control of the disease, a schedule of visits and complementary tests should be established prior to discharge, and guidelines for prevention of exacerbations and appropriate treatment should be applied. In this paper, the Working Group in Perinatal Respiratory Diseases of the Spanish Society of Pediatric Pulmonology proposes a protocol to serve as a reference for the follow up of patients with BPD among different centers and health care settings. Key factors to consider when planning discharge from the Neonatal Unit and during follow up are reviewed. Recommendations on treatment and prevention of complications are then discussed. The final section of this guide aims to provide a specific schedule for follow-up and diagnostic interventions to be performed in patients with BPD.

Pletismografía corporal (I): estandarización y criterios de calidad / Body plethysmography (I): Standardisation and quality criteria

La pletismografía corporal completa permite la medición de volúmenes, capacidades y resistencias pulmonares. Es una técnica bien estandarizada y ampliamente utilizada en neumología pediátrica, aunque requiere equipo específico, personal especializado y cierta colaboración por parte del paciente. La pletismografía utiliza la ley de Boyle para determinar el volumen de gas intratorácico o capacidad residual funcional, y una vez determinada esta, se extrapolan el volumen residual y la capacidad pulmonar total. La medición de la capacidad pulmonar total es necesaria para el diagnóstico de patología restrictiva. La resistencia de la vía aérea es una medida de obstrucción, pudiéndose determinar la resistencia total, que incluye la resistencia de la pared torácica, tejido pulmonar y vía aérea, y la resistencia específica, que es un parámetro más estable que corresponde al producto de la resistencia de la vía aérea por la capacidad residual funcional. La complejidad de esta técnica, las ecuaciones de referencia, las diferencias en el equipamiento, la variabilidad de la misma y las condiciones en las que se realiza han hecho necesaria su estandarización. Se analizan a lo largo del artículo los aspectos prácticos de esta técnica, especificando las recomendaciones para su realización, sistemática de calibración y los cálculos que se deben llevar a cabo, así como la interpretación de los resultados obtenidos. El objetivo de esta publicación es favorecer una mejor comprensión de los principios de la pletismografía completa con el fin de optimizar la interpretación de los resultados favoreciendo un mejor manejo del paciente y un consenso en la especialidad (AU)

Whole body plethysmography is used to measure lung volumes, capacities and resistances. It is a well standardised technique, and although it is widely used in paediatric chest diseases units, it requires specific equipment, specialist staff, and some cooperation by the patient. Plethysmography uses Boyle's law in order to measure the intrathoracic gas volume or functional residual capacity, and once this is determined, the residual volume and total lung capacity is extrapolated. The measurement of total lung capacity is necessary for the diagnosis of restrictive diseases. Airway resistance is a measurement of obstruction, with the total resistance being able to be measured, which includes chest wall, lung tissue and airway resistance, as well as the specific airway resistance, which is a more stable parameter that is determined by multiplying the measured values of airway resistance and functional residual capacity. The complexity of this technique, the reference equations, the differences in the equipment and their variability, and the conditions in which it is performed, has led to the need for its standardisation. Throughout this article, the practical aspects of plethysmography are analysed, specifying recommendations for performing it, its systematic calibration and the calculations that must be made, as well as the interpretation of the results obtained. The aim of this article is to provide a better understanding of the principles of whole body plethysmography with the aim of optimising the interpretation of the results, leading to improved management of the patient, as well as a consensus among the speciality (AU)

Medición de la difusión de CO (II): estandarización y criterios de calidad / Measurement of CO diffusion capacity (II): Standardization and quality criteria

La capacidad de difusión es la técnica que mide la capacidad del aparato respiratorio para realizar el intercambio gaseoso y así diagnosticar la disfunción de la unidad alvéolo-capilar. El parámetro más importante a evaluar es la capacidad de difusión del CO (DLCO). Actualmente hay nuevos métodos para medir la capacidad de difusión utilizando óxido nítrico (NO). Existen diferentes métodos de medida, aunque en este artículo nos referiremos sobre todo a la técnica de la respiración única, la más utilizada y mejor estandarizada. Su complejidad, sus ecuaciones de referencia, las diferencias en equipamiento, la variabilidad interpacientes y las condiciones en las que se realiza hacen que exista una gran variabilidad interlaboratorio, habiéndose realizado estandarizaciones para hacer este método más fiable y reproducible. Se analizan los aspectos prácticos de la técnica, especificando las recomendaciones para la realización de un procedimiento adecuado, sistemática de calibración y cálculos y ajustes necesarios. También se exponen sus aplicaciones clínicas. Se produce un aumento de la transferencia de CO en las enfermedades en las que existe un aumento del volumen sanguíneo en los capilares pulmonares, en la policitemia y en la hemorragia pulmonar. Existe una disminución de la DLCO en los pacientes con reducción del volumen alveolar o en los defectos de difusión, ya sea por alteración de la membrana alvéolo-capilar (enfermedad intersticial) o por disminución del volumen de sangre en los capilares pulmonares (embolia pulmonar o hipertensión pulmonar primaria). También se exponen otras causas de disminución o aumento de la DLCO

The diffusion capacity is the technique that measures the ability of the respiratory system for gas exchange, thus allowing a diagnosis of the malfunction of the alveolar-capillary unit. The most important parameter to assess is the CO diffusion capacity (DLCO). New methods are currently being used to measure the diffusion using nitric oxide (NO). There are other methods for measuring diffusion, although in this article the single breath technique is mainly referred to, as it is the most widely used and best standardized. Its complexity, its reference equations, differences in equipment, inter-patient variability and conditions in which the DLCO is performed, lead to a wide inter-laboratory variability, although its standardization makes this a more reliable and reproductive method. The practical aspects of the technique are analyzed, by specifying the recommendations to carry out a suitable procedure, the calibration routine, calculations and adjustments. Clinical applications are also discussed. An increase in the transfer of CO occurs in diseases in which there is an increased volume of blood in the pulmonary capillaries, such as in the polycythemia and pulmonary hemorrhage. There is a decrease in DLCO in patients with alveolar volume reduction or diffusion defects, either by altered alveolar-capillary membrane (interstitial diseases) or decreased volume of blood in the pulmonary capillaries (pulmonary embolism or primary pulmonary hypertension). Other causes of decreased or increased DLCO are also highlighted

[Body plethysmography (I): Standardisation and quality criteria]. / Pletismografía corporal (I): estandarización y criterios de calidad.

Whole body plethysmography is used to measure lung volumes, capacities and resistances. It is a well standardised technique, and although it is widely used in paediatric chest diseases units, it requires specific equipment, specialist staff, and some cooperation by the patient. Plethysmography uses Boyle's law in order to measure the intrathoracic gas volume or functional residual capacity, and once this is determined, the residual volume and total lung capacity is extrapolated. The measurement of total lung capacity is necessary for the diagnosis of restrictive diseases. Airway resistance is a measurement of obstruction, with the total resistance being able to be measured, which includes chest wall, lung tissue and airway resistance, as well as the specific airway resistance, which is a more stable parameter that is determined by multiplying the measured values of airway resistance and functional residual capacity. The complexity of this technique, the reference equations, the differences in the equipment and their variability, and the conditions in which it is performed, has led to the need for its standardisation. Throughout this article, the practical aspects of plethysmography are analysed, specifying recommendations for performing it, its systematic calibration and the calculations that must be made, as well as the interpretation of the results obtained. The aim of this article is to provide a better understanding of the principles of whole body plethysmography with the aim of optimising the interpretation of the results, leading to improved management of the patient, as well as a consensus among the speciality.

[Measurement of CO diffusion capacity (II): Standardization and quality criteria]. / Medición de la difusión de CO (II): estandarización y criterios de calidad.

The diffusion capacity is the technique that measures the ability of the respiratory system for gas exchange, thus allowing a diagnosis of the malfunction of the alveolar-capillary unit. The most important parameter to assess is the CO diffusion capacity (DLCO). New methods are currently being used to measure the diffusion using nitric oxide (NO). There are other methods for measuring diffusion, although in this article the single breath technique is mainly referred to, as it is the most widely used and best standardized. Its complexity, its reference equations, differences in equipment, inter-patient variability and conditions in which the DLCO is performed, lead to a wide inter-laboratory variability, although its standardization makes this a more reliable and reproductive method. The practical aspects of the technique are analyzed, by specifying the recommendations to carry out a suitable procedure, the calibration routine, calculations and adjustments. Clinical applications are also discussed. An increase in the transfer of CO occurs in diseases in which there is an increased volume of blood in the pulmonary capillaries, such as in the polycythemia and pulmonary hemorrhage. There is a decrease in DLCO in patients with alveolar volume reduction or diffusion defects, either by altered alveolar-capillary membrane (interstitial diseases) or decreased volume of blood in the pulmonary capillaries (pulmonary embolism or primary pulmonary hypertension). Other causes of decreased or increased DLCO are also highlighted.

Tratamientos respiratorios en la enfermedad neuromuscular / Respiratory treatments in neuromuscular disease

Revisadas en un artículo anterior la fisiopatología respiratoria del enfermo neuromuscular (ENM), así como su evaluación clínica y las principales complicaciones causantes de su deterioro pulmonar, en el presente artículo se describen los tratamientos respiratorios necesarios para preservar la función pulmonar del ENM durante el mayor tiempo posible, así como en situaciones especiales (infecciones respiratorias, cirugía de escoliosis, etc.). Se hace especial hincapié en la utilidad de la ventilación no invasiva cuyo uso está cambiando la historia natural de muchas de estas enfermedades. La prolongación de la vida en estos niños permite que lleguen a las unidades de neumología de adultos para proseguir su atención. La transición desde la pediatría debe ser un proceso activo, progresivo en el tiempo y poco estresante para el paciente ante la adaptación a ese nuevo entorno, manteniendo siempre una atención multidisciplinar

In a previous article, a review was presented of the respiratory pathophysiology of the patient with neuromuscular disease, as well as their clinical evaluation and the major complications causing pulmonary deterioration. This article presents the respiratory treatments required to preserve lung function in neuromuscular disease as long as possible, as well as in special situations (respiratory infections, spinal curvature surgery, etc.). Special emphasis is made on the use of non-invasive ventilation, which is changing the natural history of many of these diseases. The increase in survival and life expectancy of these children means that they can continue their clinical care in adult units. The transition from pediatric care must be an active, timely and progressive process. It may be slightly stressful for the patient before the adaptation to this new environment, with multidisciplinary care always being maintained

Enfermedad multiquística pulmonar en el niño. Diagnóstico diferencial / Multicystic lung diseases in children. Differential diagnosis

Presentamos el caso de un varón de 14 años, diagnosticado de histiocitosis de células de Langerhans a los 16 meses de edad, en el que, sin presentar patología respiratoria evidente, se aprecia un patrón multiquístico bilateral en la tomografía computarizada de tórax, y un patrón intersticial bilateral en la radiografía convencional. Atendiendo a las características radiológicas del paciente, proponemos el diagnóstico diferencial de entidades infrecuentes que cursan con expresión multiquística pulmonar en la edad pediátrica (AU)

We report that a 14-year-old teen who was diagnosed with Langerhans cell histiocytosis at 16 months of age and with no previous respiratory symptoms, shows a bilateral multicystic pattern in thoracic computed tomography and bilateral interstitial infiltrates in chest radiography. Taking into account the radiologic features we propose the differential diagnosis of disorders with multiple cystic pulmonary findings in children (AU)

[Respiratory treatments in neuromuscular disease]. / Tratamientos respiratorios en la enfermedad neuromuscular.

In a previous article, a review was presented of the respiratory pathophysiology of the patient with neuromuscular disease, as well as their clinical evaluation and the major complications causing pulmonary deterioration. This article presents the respiratory treatments required to preserve lung function in neuromuscular disease as long as possible, as well as in special situations (respiratory infections, spinal curvature surgery, etc.). Special emphasis is made on the use of non-invasive ventilation, which is changing the natural history of many of these diseases. The increase in survival and life expectancy of these children means that they can continue their clinical care in adult units. The transition from pediatric care must be an active, timely and progressive process. It may be slightly stressful for the patient before the adaptation to this new environment, with multidisciplinary care always being maintained.

Diagnóstico prenatal y manejo del quiste broncogénico / Prenatal diagnosis and management of bronchogenic cyst

No disponible

Implicaciones patológicas de una variante de la normalidad: el bronquio traqueal / Pathological implications of a normal variant, tracheal bronchus

Presentamos el caso clínico de un lactante varón de 12 meses de edad, con antecedentes de episodios recurrentes de fiebre, tos y dificultad respiratoria; en la radiografía de tórax presentaba una imagen persistente de consolidación alveolar en el lóbulo superior derecho. Se valoraron las diferentes posibilidades diagnósticas, así como el plan de actuación. Finalmente, en este paciente se detectó la presencia de un bronquio traqueal, considerado una variante anatómica, generalmente asintomática, aunque puede manifestarse como infecciones recurrentes, como en este caso, y también puede asociarse a otras malformaciones congénitas. El manejo terapéutico es conservador, mediante fisioterapia respiratoria y tratamiento de la inflamación e infección, aunque en ocasiones es necesaria la cirugía. Muchas anomalías congénitas bronquiales son infrecuentes y asintomáticas, por lo que pueden pasar desapercibidas. Sin embargo, ante la cronicidad o recurrencia de los procesos respiratorios, hay que descartar su existencia. La detección precoz de estas malformaciones con técnicas adecuadas puede evitar una evolución a la cronicidad y condicionar la actitud terapéutica. Generalmente no precisan tratamiento pero algunos casos requieren un manejo específico más agresivo (AU)

We report the case of a 12 month old boy who suffered recurrent episodes of fever, cough and respiratory distress and evidence of a persistent image of alveolar consolidation in the right upper lobe on chest radiography. We discuss the differential diagnosis list and the management of the case. Finally, we detect in our patient the presence of a tracheal bronchus. Thracheal bronchus is considered an anatomical variant, usually asymptomatic, but can show up with recurrent infections as occurred in our patient. It may also be associated with other congenital malformations. The conservative treatment is the best choice and consists in chest physiotherapy and the treatment of inflammation and infection. The need for surgery is uncommon. Most of the congenital bronchial abnormalities may go unnoticed because they are normally asymptomatic. However, in chronic or recurrent respiratory processes they must be ruled out. The early detection of these malformations can prevent the appearance of chronic lung diseases and can allow for the best therapeutic approach. Although most of the cases do not require treatment, some of them require specific and more aggressive handling (AU)

Genetic susceptibility to lung cancer based on candidate genes in a sample from the Mexican Mestizo population: a case-control study.

BACKGROUND: Lung cancer (LC) is the leading cause of mortality caused by neoplasias worldwide. Although cigarette smoking is the primary cause, not all smokers develop LC. Polymorphic variations in genes associated with carcinogen metabolism, DNA repair, and cell-cycle dysregulation may alter an individual risk of developing LC. A polygenic cancer model was proposed, which considers genetic susceptibility to cancer is a global mechanism and suggests that it might be defined by the contributions of low-risk alleles in several candidate genes. This study focused on the analysis of 15 polymorphisms in 12 low-penetrance genes in a case-control study of a sample of Mexican Mestizo population. METHODS: A case-control study was performed with a total of 572 unrelated individuals, including 190 cases with a primary LC diagnosis and 382 healthy controls. The polymorphic status of the individuals was determined by TaqMan probe and RFLP techniques. The association between LC and genotype score (GS) was assessed by logistic regression. RESULTS: The results suggests a protective effect of the genotypes Arg/Lys of AhR rs2066853 (odds ratio [OR] 0.55, p = 0.03), Ile/Val of CYP1A1 rs1048943 (OR 0.49, p = 0.009), Tyr/His of EPHX1 rs1051740 (OR 0.53, p = 0.03), and A/A of CCND1 rs603965 (OR 0.44, p = 0.02). Analyses using the GS suggest that average cases have a larger number of risk alleles than controls (Student's t test -4.85, p = 0.001; OR 1.25, p < 0.001). CONCLUSIONS: Our results suggest significant differences between the GS for the cases and controls, which support the hypothesis underlying the additive and polygenic models for lung cancer risk depending on the polymorphisms in low-penetrance genes.