32 results on '"Javier Sayas Catalán"'
Search Results
2. Unidades de Cuidados Respiratorios Intermedios: preguntas y respuestas
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Daniel López-Padilla, Marta Corral Blanco, Santos Ferrer Espinosa, Sofía Romero Peralta, Júlia Sampol, José Rafael Terán Tinedo, Irene Cano Pumarega, and Javier Sayas Catalán
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Respiratory care units ,Cost-benefit analysis ,Respiratory insufficiency ,Diseases of the respiratory system ,RC705-779 - Abstract
Resumen: Las unidades de cuidados respiratorios intermedios (UCRI) son áreas de monitorización y atención especializada de pacientes con insuficiencia respiratoria aguda o crónica-agudizada, cuya gravedad no precisa de ingreso en una unidad de cuidados intensivos, pero por cuya complejidad tampoco pueden ser tratados en planta de hospitalización convencional. Si bien la pandemia por COVID-19 ha demostrado su utilidad en el manejo del paciente respiratorio crítico, la trayectoria histórica de las UCRI viene de muchos años atrás, en los que se ha demostrado su coste-efectividad con creces. El presente documento presenta una serie de preguntas y respuestas sobre la historia de las UCRI, además de los criterios de admisión, infraestructura, recursos humanos y técnicos y los tipos de unidades existentes. En el seno del Año UCRI 2021-2022 designado por la Sociedad Española de Neumología y Cirugía Torácica, es oportuna toda divulgación científica vinculada al conocimiento en profundidad de estas unidades, donde confluyen la multidisciplinariedad y el trabajo de profesionales relacionados con el cuidado del paciente respiratorio crítico. Abstract: The intermediate respiratory care units (UCRI) are areas of monitoring and specialized care of patients with acute or chronic-exacerbated respiratory failure, whose severity does not require admission to an intensive care unit, but which due to their complexity cannot be treated in conventional hospitalization. Although the COVID-19 pandemic has proven its usefulness in the management of critical respiratory patients, the historical trajectory of the UCRI comes from many years ago, in which its cost-effectiveness has been demonstrated by far. This document presents a series of questions and answers on the history of the UCRI, in addition to the criteria for admission, infrastructure, human and technical resources, and the types of existing Units. Within the UCRI year 2021-2022 designated by the Spanish Society of Pneumology and Thoracic Surgery, any scientific dissemination linked to the in-depth knowledge of these units is timely, where multidisciplinarity and the work of professionals related to the care of critical respiratory patients converge.
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- 2022
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3. Late-onset thymidine kinase 2 deficiency: a review of 18 cases
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Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, and Carmen Paradas
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TK2 deficiency ,Mitochondrial myopathy ,Multiple deletions ,Medicine - Abstract
Abstract Background TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. Methods We describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with absence of clinical symptoms until the age of 12. Results The mean age of onset was 31 years. The first symptom was muscle limb weakness in 10/18, eyelid ptosis in 6/18, and respiratory insufficiency in 2/18. All patients developed variable muscle weakness during the evolution of the disease. Half of patients presented difficulty in swallowing. All patients showed evidence of respiratory muscle weakness, with need for non-invasive Mechanical Ventilation in 12/18. Four patients had deceased, all of them due to respiratory insufficiency. We identified common radiological features in muscle magnetic resonance, where the most severely affected muscles were the gluteus maximus, semitendinosus and sartorius. On muscle biopsies typical signs of mitochondrial dysfunction were associated with dystrophic changes. All mutations identified were previously reported, being the most frequent the in-frame deletion p.Lys202del. All cases showed multiple mtDNA deletions but mtDNA depletion was present only in two patients. Conclusions The late-onset is the less frequent form of presentation of the TK2 deficiency and its natural history is not well known. Patients with late onset TK2 deficiency have a consistent and recognizable clinical phenotype and a poor prognosis, due to the high risk of early and progressive respiratory insufficiency.
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- 2019
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4. La variabilidad asistencial en la ELA: una cuestión pendiente
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Marta Corral-Blanco and Javier Sayas-Catalán
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- 2022
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5. Morbidity and mortality of serious gastrointestinal complications after lung transplantation
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Alicia De Pablo Gafas, V. Pérez-González, Félix Cambra, Javier Sayas-Catalán, Ana Hermida-Anchuelo, Rodrigo Alonso-Moralejo, Annette Zevallos-Villegas, and Pablo Gámez-García
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Lung Diseases ,Male ,Gastrointestinal Diseases ,medicine.medical_treatment ,Comorbidity ,Kaplan-Meier Estimate ,030230 surgery ,Postoperative Complications ,0302 clinical medicine ,Risk Factors ,Prospective Studies ,General Medicine ,Middle Aged ,Cardiac surgery ,Survival Rate ,medicine.anatomical_structure ,Lung transplantation ,Biliary tract ,Cardiothoracic surgery ,030220 oncology & carcinogenesis ,Female ,Cardiology and Cardiovascular Medicine ,Research Article ,Adult ,Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,lcsh:Surgery ,lcsh:RD78.3-87.3 ,03 medical and health sciences ,Internal medicine ,Surgical complication ,medicine ,Humans ,Gastrointestinal complications ,Risk factor ,Mortality ,Aged ,Lung ,business.industry ,lcsh:RD1-811 ,medicine.disease ,Survival Analysis ,Transplantation ,lcsh:Anesthesiology ,Multivariate Analysis ,Surgery ,Morbidity ,business - Abstract
Background Gastrointestinal complications after lung transplatation are associated with an increased risk of morbidity and mortality. This study aims to describe severe gastrointestinal complications (SGC) after lung transplantation. Methods We performed a prospective, observational study that included 136 lung transplant patients during a seven year period in a tertiary care universitary hospital. SGC were defined as any diagnosis related to the gastrointestinal or biliary tract leading to lower survival rates or an invasive therapeutic procedure. Early and late complications were defined as those occurring p Results There were 17 (12.5%) SGC in 17 patients. Five were defined as early. Twelve patients (70.6%) required surgical treatment. Mortality was 52.9% (n = 9). Patients with SGC had a lower overall survival rate compared to those who did not (14 vs 28 months, p = 0.0099). The development of arrhythmias in the first 48 h of transplantation was a risk factor for gastrointestinal complications (p = 0.0326). Conclusions SGC are common after lung transplantation and are associated with a considerable increase in morbidity-mortality. Early recognition is necessary to avoid delays in treatment, since a clear predictor has not been found in order to forecast this relevant comorbidity.
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- 2019
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6. Utilidad de las escalas de sepsis para predecir el fallo respiratorio y la muerte en pacientes con COVID-19 fuera de las Unidades de Cuidados Intensivos
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B de Miguel-Campo, Antonio Lalueza, C de la Calle, Carlos Lumbreras, Mercedes Catalán, Raquel Díaz-Simón, Estibaliz Arrieta, Álvaro Marchán-López, Mikel Mancheño-Losa, A. García-Reyne, Jaime Lora-Tamayo, Javier Sayas-Catalán, Rocío García-García, and G Maestro
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medicine.medical_specialty ,Coronavirus disease 2019 (COVID-19) ,medicine.medical_treatment ,Respiratory failure ,Fallo respiratorio ,Sepsis ,03 medical and health sciences ,0302 clinical medicine ,Intensive care ,medicine ,Original Breve ,030212 general & internal medicine ,Mechanical ventilation ,business.industry ,SARS-CoV-2 ,COVID-19 ,Sepsis-Related Organ Failure Assessment ,Retrospective cohort study ,General Medicine ,medicine.disease ,Early warning score ,respiratory tract diseases ,Coronavirus ,Early Warning Scores ,Emergency medicine ,Observational study ,business - Abstract
El presente estudio retrospectivo observacional tiene como objetivo analizar la utilidad de las escalas SOFA (Sequential Organ Failure Assessment), qSOFA (Quick SOFA), NEWS (National Early Warning Score ) y Quick NEWS para predecir el fallo respiratorio y la muerte en pacientes con COVID-19 atendidos fuera de la Unidad de Cuidados Intensivos (UCI). Se incluyeron 237 adultos con COVID-19 hospitalizados seguidos durante un mes o hasta su fallecimiento. El fallo respiratorio se definió como un cociente PaO2/FiO2 ≤ 200 mmHg o la necesidad de ventilación mecánica. Setenta y siete pacientes (32,5%) desarrollaron fallo ventilatorio; 29 (12%) precisaron ingreso en UCI, y 49 fallecieron (20,7%). La discriminación del fallo ventilatorio fue algo mayor con la puntuación NEWS, seguida de la SOFA. En cuanto a la mortalidad, la puntuación SOFA fue más exacta que las otras escalas. En conclusión, las escalas de sepsis son útiles para predecir el fallo respiratorio y la muerte en COVID-19. Una puntuación ≥ 4 en la escala NEWS sería el mejor punto de corte para predecir fallo respiratorio.
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- 2020
7. A predictive score at admission for respiratory failure among hospitalized patients with confirmed 2019 Coronavirus Disease: a simple tool for a complex problem
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Antonio, Lalueza, Jaime, Lora-Tamayo, Guillermo, Maestro-de la Calle, Dolores, Folgueira, Estíbaliz, Arrieta, Borja, de Miguel-Campo, Raquel, Díaz-Simón, David, Lora, Cristina, de la Calle, Mikel, Mancheño-Losa, Álvaro, Marchán-López, Ana, García-Reyne, Mario, Fernández-Ruiz, Javier, Sayas-Catalán, Antonio, Serrano, Cecilia, Cueto-Felgueroso, Rafael, San Juan, Rocío, García-García, Mercedes, Catalán, Victoria, Villena, José María, Aguado, Carlos, Lumbreras, and María José, Zamorro-Lorenci
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Adult ,medicine.medical_specialty ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,medicine.medical_treatment ,Disease ,EM - Original ,Respiratory failure ,030204 cardiovascular system & hematology ,Logistic regression ,medicine.disease_cause ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Internal Medicine ,medicine ,Humans ,030212 general & internal medicine ,Prospective Studies ,Pandemics ,Outcome ,Coronavirus ,Aged ,Mechanical ventilation ,Aged, 80 and over ,medicine.diagnostic_test ,business.industry ,SARS-CoV-2 ,Medical record ,Score ,COVID-19 ,Middle Aged ,Pulse oximetry ,SARS-CoV2 ,Emergency Medicine ,business ,Respiratory Insufficiency - Abstract
Coronavirus Disease 2019 (COVID-19) pandemic has implacably stricken on the wellness of many countries and their health-care systems. The aim of the present study is to analyze the clinical characteristics of the initial wave of patients with COVID-19 attended in our center, and to identify the key variables predicting the development of respiratory failure. Prospective design study with concurrent data retrieval from automated medical records of all hospitalized adult patients who tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) rRT-PCR assay performed on respiratory samples from March 2nd to 18th, 2020. Patients were followed up to May 1st, 2020 or death. Respiratory failure was defined as a PaO2/FiO2 ratio ≤ 200 mm Hg or the need for mechanical ventilation (either non-invasive positive pressure ventilation or invasive mechanical ventilation). We included 521 patients of whom 416 (81%) had abnormal Chest X-ray on admission. Median age was 64.6 ± 18.2 years. One hundred eighty-one (34.7%) developed respiratory failure after a median time from onset of symptoms of 9 days (IQR 6–11). In-hospital mortality was 23.8% (124/521). The modeling process concluded into a logistic regression multivariable analysis and a predictive score at admission. Age, peripheral pulse oximetry, lymphocyte count, lactate dehydrogenase and C-reactive protein were the selected variables. The model has a good discriminative capacity with an area under the ROC curve of 0.85 (0.82–0.88). The application of a simple and reliable score at admission seems to be a useful tool to predict respiratory failure in hospitalized COVID-19 patients. Supplementary Information The online version contains supplementary material available at 10.1007/s11739-021-02748-2.
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- 2020
8. Acute hypokinetic-rigid syndrome following SARS-CoV-2 infection
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Francisco Javier Azcárate-Díaz, Antonio Méndez-Guerrero, Mariano Ruiz-Ortiz, Víctor Antonio Blanco-Palmero, Adolfo Gómez-Grande, Jesús González de la Aleja, Ana Ramos-González, Pablo Rábano-Suárez, Eva Álvarez-Torres, María Isabel Laespada-García, Raquel Rodríguez-Montalbán, Alfredo Pérez-Rivilla, Diana Vega Pérez, Carlos Pablo de Fuenmayor-Fernández de la Hoz, and Javier Sayas Catalán
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0301 basic medicine ,Male ,Nortropanes ,Pneumonia, Viral ,Hypokinesia ,Ocular Motility Disorders ,03 medical and health sciences ,Betacoronavirus ,0302 clinical medicine ,Dopamine ,Hyposmia ,medicine ,Humans ,Pandemics ,Dopamine transporter ,Tomography, Emission-Computed, Single-Photon ,Dopamine Plasma Membrane Transport Proteins ,medicine.diagnostic_test ,biology ,business.industry ,SARS-CoV-2 ,Putamen ,Brain ,COVID-19 ,Magnetic resonance imaging ,Electroencephalography ,Opsoclonus ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Muscle Rigidity ,Pneumonia ,Parkinson Disease, Postencephalitic ,030104 developmental biology ,Anesthesia ,biology.protein ,Disease Progression ,Consciousness Disorders ,Neurology (clinical) ,medicine.symptom ,business ,Coronavirus Infections ,Myoclonus ,030217 neurology & neurosurgery ,medicine.drug - Abstract
ObjectiveTo report a case of a patient infected with severe acute respiratory syndrome coronavirus 2 (SARS–CoV-2) who acutely developed a hypokinetic-rigid syndrome.MethodsPatient data were obtained from medical records from the Hospital Universitario 12 de Octubre in Madrid, Spain. [123I]-ioflupane dopamine transporter (DaT) SPECT images were acquired 4 hours after a single dose of 185 MBq of 123I-FP-CIT. Quantitative analysis was performed with DaTQUANT software providing the specific binding ratio and z score values of the striatum.ResultsWe report a previously healthy 58-year-old man who developed hyposmia, generalized myoclonus, fluctuating and transient changes in level of consciousness, opsoclonus, and an asymmetric hypokinetic-rigid syndrome with ocular abnormalities after a severe SARS–CoV-2 infection. DaT-SPECT confirmed a bilateral decrease in presynaptic dopamine uptake asymmetrically involving both putamina. Significant improvement in the parkinsonian symptoms was observed without any specific treatment.ConclusionThis case study provides clinical and functional neuroimaging evidence to support that SARS–CoV-2 can gain access to the CNS, affecting midbrain structures and leading to neurologic signs and symptoms.
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- 2020
9. A Predictive Score at Admission for Respiratory Failure Among Hospitalized Patients with Confirmed 2019 Coronavirus Disease: A Simple Tool for a Complex Problem
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Raquel Díaz-Simón, Cecilia Cueto-Felgueroso, Cristina de la Calle, Rafael San Juan, David Lora, Carlos Lumbreras, Álvaro Marchán-López, José María Aguado, A. García-Reyne, Javier Sayas-Catalán, Mario Fernández-Ruiz, Borja de Miguel-Campo, María Dolores Folgueira, Antonio Serrano, Jaime Lora-Tamayo, Rocío García-García, Estibaliz Arrieta, Mercedes Catalán, Guillermo Maestro de la Calle, Mikel Mancheño-Losa, and Antonio Lalueza
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Mechanical ventilation ,medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Disease ,Logistic regression ,Clinical research ethics ,Respiratory failure ,Informed consent ,Emergency medicine ,Pandemic ,Medicine ,Observational study ,business - Abstract
Background: Coronavirus Disease 2019 (COVID-19) pandemic has implacably stricken on the wellness of many countries and their health-care systems. The aim of the present study is analyze the clinical characteristics of the initial wave of patients with COVID-19 attended in our center, and to identify the key variables predicting the development of respiratory failure. Methods: We retrospectively recruited all hospitalized adult patients who tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) rRT-PCR assay performed on respiratory samples from March 2nd to 18th, 2020. Patients were followed up to May 1st, 2020 or death. Respiratory failure was defined as a PaO2/FiO2 ratio ≤200 mm Hg or the need for mechanical ventilation (either non-invasive positive pressure ventilation or invasive mechanical ventilation). Findings: We included 521 patients of whom 416 (81%) had abnormal Chest X-ray on admission. Median age was 64·6 ± 18·2 years, with 317 patients (60.8%) over 60 years. One hundred eighty-one (34·7%) developed respiratory failure after a median time from onset of symptoms of 9 days (IQR: 6-11) and the in-hospital mortality was 23·8% (124/521). The modelling process concluded into a logistic regression multivariable analysis and a predictive score at admission. Age, peripheral pulse oximetry, lymphocyte count, lactate dehydrogenase and C-reactive protein were the selected variables. The model has a good discriminative capacity with an area under the ROC curve of 0·85 (0·82-0·88). Interpretation: The application of a simple and reliable score at admission seems to be a useful tool to predict respiratory failure in hospitalized COVID-19 patients. Funding: This study was supported by the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III (COVID-19 research call COV20/00181) — co‐ financed by the European Development Regional Fund “A way to achieve Europe”. Mikel Mancheno-Losa was supported by a Research Contract “Rio Hortega” from the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III (CM19/00226). Mario Fernandez-Ruiz holds a research contract “Miguel Servet” from the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III (CP 18/00073). Declaration of Interests: The authors declared they do not have anything to disclose regarding conflict of interest with respect to this manuscript. Ethics Approval Statement: The protocol was approved by the Hospital 12 de Octubre Clinical Research Ethics Committee (reference 20/117) and granted a waiver of informed consent due to its retrospective observational design.
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- 2020
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10. Síndrome de apnea-hipopnea durante el sueño en pacientes con insuficiencia respiratoria crónica grave
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Trinidad Díaz Cambriles, Ana Hernández Voth, Alicia de Pablo Gafas, Pedro Benavides Mañas, Javier Sayas Catalán, and Victoria Villena Garrido
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Neck circumference ,COPD ,Pediatrics ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Epworth Sleepiness Scale ,medicine.medical_treatment ,General Medicine ,Polysomnography ,Disease ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,030228 respiratory system ,medicine ,Lung transplantation ,Observational study ,In patient ,business ,030217 neurology & neurosurgery - Abstract
Introduction and objective Although sleep disordered breathing is common in patients with a severe chronic respiratory insufficiency (SCRI), there is few information on its prevalence. Our aim was to describe the prevalence and characteristics of the obstructive sleep apnea-hypopnea syndrome (OSAHS) in these patients. Material and methods Prospective and observational study carried out on patients with a SCRI included in a waiting list for a lung transplantation and who had undergone a standard polysomnography. Results A total of 105 patients were examined, of which 85 met the study's inclusion criteria. The prevalence of the OSAHS was 24.7%, with 19% of cases being severe. The most common underlying respiratory condition was COPD (62%). The OSAHS was linked to the male gender (P = .002), weight (P = .013), BMI (P = .034) and neck circumference (P = .01). Although most patients experienced symptoms suggestive of an OSAHS, the average score obtained in the Epworth Sleepiness Scale was low. Conclusions We observed a high prevalence of OSAHS in patients with a SCRI but without clinical data suggestive of its diagnosis; hence, we believe that sleep studies should be carried out in these patients given the low pre-test clinical suspicion of the disease.
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- 2017
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11. Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015
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María Angeles García Teresa, Raquel Porto Abal, Silvia Rodríguez Torres, Diego García Urabayen, Silvia García Martínez, Ha Trang, Angel Campos Barros, Ana Llorente de la Fuente, Arturo Hernández González, Amaya Bustinza Arriortua, Jesús de la Cruz Moreno, Martí Pons Odena, Purificación Ventura Faci, Laura Rubio Ortega, Estela Pérez Ruiz, Antonio Aguilar Fernández, Amaya Pérez Ocón, Borja Osona, Isabel Delgado Pecellin, Ignacio Arroyo Carrera, Javier Sayas Catalán, Elvira González Salas, and Carlos Martin de Vicente
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Congenital central hypoventilation syndrome ,Registry ,03 medical and health sciences ,0302 clinical medicine ,030228 respiratory system ,030225 pediatrics ,Pediatrics, Perinatology and Child Health ,Health care ,PHOX2B ,Rare disease ,Pediatrics ,RJ1-570 - Abstract
Introducción El síndrome de hipoventilación central congénita (SHCC) es una enfermedad genética muy rara causada por mutaciones en PHOX2B; en 2010 se creó el Consorcio Europeo del Síndrome de Hipoventilación Central, que en 2012 implantó un Registro online de pacientes para optimizar su cuidado. Objetivo Conocer las características y la evolución de los pacientes españoles con SHCC y detectar áreas de mejora. Materiales y método Se analizaron los datos actualizados en diciembre del 2015 de los pacientes españoles del Registro europeo. Resultados Se registró a 38 pacientes, nacidos entre 1987 y 2013, procedentes de 18 hospitales. El 34, 2% eran mayores de 18 años. Han fallecido 3 pacientes. Aportaban estudio del gen PHOX2B 37 (97, 3%), 32 (86, 5%) con mutación. Los genotipos 20/25, 20/26 y 20/27 representaron el 84, 3% de las mutaciones. Las disautonomías fueron más frecuentes y graves en portadores de genotipos con mayores expansiones de polialaninas. El 47% de pacientes asociaba alteraciones oculares, el 16% Hirschsprung, el 13% hipoglucemias y el 5% tumores. Treinta pacientes (79%) debutaron en el periodo neonatal y 8 (21%) posteriormente (inicio/diagnóstico tardío). Ocho niños (21%) recibieron inicialmente ventilación domiciliaria con mascarilla; 5 eran lactantes con comienzo neonatal, 2 de ellos precisaron cambio a traqueostomía tras presentar parada cardiorrespiratoria; ambos tenían mutaciones graves. Han sido decanulados y transferidos a mascarilla el 34, 3% de los pacientes (edad media: 13, 7 años). El 29, 4% de los niños escolarizados precisaron refuerzo educativo. Conclusión La implementación del Registro en España de pacientes con SHCC ha permitido identificar aspectos relevantes para optimizar sus cuidados, tales como la importancia del estudio genético para el diagnóstico y la estimación de gravedad, la frecuencia elevada de alteraciones oculares y de necesidad de refuerzo educativo, y algunas limitaciones de las técnicas ventilatorias. Introduction Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. Aim To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. Materials and method An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. Results The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. Conclusion The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques.
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- 2017
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12. Respiratory failure in late onset thymidine kinase 2 deficiency
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Alba Castaño Menendez, Ana Hernández Voth, Javier Sayas Catalán, Victoria Villena Garrido, Cristina Domínguez-González, and Marta Corral Blanco
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Mechanical ventilation ,medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Late onset ,medicine.disease ,Gastroenterology ,FEV1/FVC ratio ,Respiratory failure ,Mitochondrial myopathy ,Thymidine kinase ,Internal medicine ,medicine ,Respiratory muscle ,Respiratory system ,business - Abstract
Introduction: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for a mitochondrial myopathy. This is a very rare disease and there are few cases described in literature, we describe the respiratory involvement we have observed in a series case. Methods: Observational prospective study of the respiratory evolution of 6 patients with late onset thymidine kinase 2 deficiency (LOTK2D), followed in a third level hospital, before and after the experimental treatment with nucleoside therapy. Results: Six patients were studied, 5 women and 1 woman with a median age of 53 years. All of them with severe respiratory muscle involvement leading to non-invasive mechanical ventilation. All of them were treated with an experimental nucleoside therapy, observing after treatment a statistically significant reduction of pCO2 (41 to 38 mmHg), and increase of the FVC (60 to 65%), therefore improving respiratory functional tests during the first 6 months after treatment. Respiratory symptoms were present in all patients from the moment of diagnoses, and they all developed respiratory failure leading to non-invasive mechanical ventilation. Conclusion: Respiratory involvement in LOTK2D is frequent, in this series it was present in every patient, all of them requiring non-invasive mechanical ventilation despite of nucleoside replacement treatment. Therefore, it is critical to identify signs and symptoms of nocturnal hypoventilation during clinical evaluation of these patients, regardless of the severity of the skeletal myopathy.
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- 2019
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13. Late-onset thymidine kinase 2 deficiency: a review of 18 cases
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Elena García Arumí, Bosco Méndez-Ferrer, Roberto Fernández-Torrón, Miguel A. Martín, Alberto Blázquez Encinar, Javier Sayas Catalán, Marti Ramon, Carmen Paradas, Germán Morís, Montse Olivé, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Candela Caballero, Jorge García García, Jordi Díaz-Manera, Carmen Fuiza-Luces, María Carmen Badosa, Jesús Esteban, Aurelio Hernández-Laín, Joaquín Arenas, Michio Hirano, Ana Hernández-Voth, Frances Miralles, Eloy Rivas, [Dominguez-Gonzalez,C, Esteban,J] Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Dominguez-Gonzalez,C, Fuiza-Luces,C, Esteban,J, Blazquez Encinar,A, Arenas,J, Martin,MA] Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. [Dominguez-Gonzalez,C, Díaz-Manera,J, Martí,C, García Arumi,E, Jimenez-Mallebrera,C, Martin,MA] Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Hernández-Laín,A] Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Rivas,E] Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Hernández-Voth,A, Sayas Catalán,J] Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Fernández-Torrón,R] Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. [Fuiza-Luces,C, Martin,MA] Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain. [García García,J] Neurology Department, Hospital de Albacete, Albacete, Spain. [Morís,G] Neurology Department, Neuromuscular disorders Unit, Hospital Central de Asturias, Oviedo, Spain. [Olivé,M] Pathological Anatomy Department, Neuromuscular disorders unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain. [Miralles,F] Neurology department, Neuromuscular disorders unit, Hospital Universitari Son Espases, Palma, Spain. [Díaz-Manera,J] Neurology department, Neuromuscular disorders unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. [Caballero,C] Respiratory Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, CIBERES, Universidad de Sevilla, Sevilla, Spain. [Méndez-Ferrer,B] Rehabilitation Department, Hospital Virgen del Rocio, Sevilla, Spain. [Martí,R, Badosa,MC, Jimenez-Mallebrera,C] Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain. [García Arumi,E] Research group on Neuromuscular and Mitochondrial Diseases, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain. [Hirano,M] Department of Neurology, H. Houston Merritt Center, Columbia University Medical Center, New York, USA. [Paradas,C] Neurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Paradas,C] Biomedical Network Research Centre on Neurodegenerative Diseases (CIBERNED), Madrid, Spain., This work was supported by research grants of Plan Nacional de I + D + I and Instituto de Salud Carlos III (ISCIII), Subdirección General de Evaluación y Fomento de la Investigación Sanitaria', project PI16–01843 (CP), PI16/00579 and CP09/00011 for CJM and the European Regional Development Fund (FEDER a way to achieve Europe). MAM has received funding from the Spanish ISCIII (grant PI 15/00431). A multicentric grant funded by the ISCIII (PMP15/00025 to MAM, RM, MO, CP)., Instituto de Biomedicina de Sevilla (IBIS), Institut Català de la Salut, [Domínguez-González C] Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Hernández-Laín A] Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Rivas E] Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Hernández-Voth A, Sayas Catalán J] Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Fernández-Torrón R] Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. [García Arumi E] Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Grup de recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain., Vall d'Hebron Barcelona Hospital Campus, Instituto de Salud Carlos III, European Commission, and Ministerio de Economía y Competitividad (España)
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0301 basic medicine ,Male ,Pathology ,Diseases::Musculoskeletal Diseases::Muscular Diseases [Medical Subject Headings] ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies::Retrospective Studies [Medical Subject Headings] ,humanos ,ADN ,Multiple deletions ,lcsh:Medicine ,adolescente ,afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::trastornos de aparición tardía [ENFERMEDADES] ,miopatías mitocondriales ,ADN mitocondrial ,030105 genetics & heredity ,DNA, mitochondrial ,Mitocondris ,Late Onset Disorders ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,0302 clinical medicine ,Ptosis ,Mitochondrial myopathy ,Pharmacology (medical) ,Respiratory system ,Child ,Genetics (clinical) ,mediana edad ,enfermedades musculares ,Otros calificadores::Otros calificadores::/genética [Otros calificadores] ,Mitochondrial Myopathies ,Anatomy::Musculoskeletal System::Muscles::Muscle, Skeletal [Medical Subject Headings] ,General Medicine ,adulto ,Middle Aged ,Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies [DISEASES] ,Mitochondria ,adulto joven ,Gene delention ,Músculs - Malalties - Aspectes genètics ,TK2 deficiency ,Female ,Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase [CHEMICALS AND DRUGS] ,medicine.symptom ,Persons::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings] ,Adult ,Weakness ,medicine.medical_specialty ,Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings] ,Adolescent ,Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Late Onset Disorders [DISEASES] ,Check Tags::Male [Medical Subject Headings] ,Late onset ,macromolecular substances ,Timidina ,Mitochondrial depletion ,DNA, Mitochondrial ,Thymidine Kinase ,Persons::Persons::Age Groups::Adolescent [Medical Subject Headings] ,03 medical and health sciences ,Young Adult ,Muscular Diseases ,Eliminación de gen ,medicine ,Other subheadings::Other subheadings::/genetics [Other subheadings] ,Humans ,Persons::Persons::Age Groups::Child [Medical Subject Headings] ,Muscle, Skeletal ,Persons::Persons::Age Groups::Adult [Medical Subject Headings] ,mutación ,Malalties musculars ,Retrospective Studies ,Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Mitochondrial [Medical Subject Headings] ,business.industry ,Research ,lcsh:R ,estudios retrospectivos ,Mutació (Biologia) ,Muscle weakness ,Persons::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings] ,DNA ,medicine.disease ,Timidina quinasa ,timidina cinasa ,enfermedades del sistema nervioso::enfermedades neuromusculares::enfermedades musculares::miopatías mitocondriales [ENFERMEDADES] ,Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase [Medical Subject Headings] ,Check Tags::Female [Medical Subject Headings] ,Thymidine kinase ,Miopatías mitocondriales ,enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::timidina cinasa [COMPUESTOS QUÍMICOS Y DROGAS] ,Mutation ,Diseases::Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies [Medical Subject Headings] ,business ,030217 neurology & neurosurgery - Abstract
[Background] TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity., [Methods] We describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with absence of clinical symptoms until the age of 12., [Results] The mean age of onset was 31 years. The first symptom was muscle limb weakness in 10/18, eyelid ptosis in 6/18, and respiratory insufficiency in 2/18. All patients developed variable muscle weakness during the evolution of the disease. Half of patients presented difficulty in swallowing. All patients showed evidence of respiratory muscle weakness, with need for non-invasive Mechanical Ventilation in 12/18. Four patients had deceased, all of them due to respiratory insufficiency. We identified common radiological features in muscle magnetic resonance, where the most severely affected muscles were the gluteus maximus, semitendinosus and sartorius. On muscle biopsies typical signs of mitochondrial dysfunction were associated with dystrophic changes. All mutations identified were previously reported, being the most frequent the in-frame deletion p.Lys202del. All cases showed multiple mtDNA deletions but mtDNA depletion was present only in two patients., [Conclusions] The late-onset is the less frequent form of presentation of the TK2 deficiency and its natural history is not well known. Patients with late onset TK2 deficiency have a consistent and recognizable clinical phenotype and a poor prognosis, due to the high risk of early and progressive respiratory insufficiency., This work was supported by research grants of Plan Nacional de I + D + I and Instituto de Salud Carlos III (ISCIII), Subdirección General de Evaluación y Fomento de la Investigación Sanitaria”, project PI16–01843 (CP), PI16/00579 and CP09/00011 for CJM and the European Regional Development Fund (FEDER a way to achieve Europe). MAM has received funding from the Spanish ISCIII (grant PI 15/00431). A multicentric grant funded by the ISCIII (PMP15/00025 to MAM, RM, MO, CP).
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- 2019
14. Videolaryngoscopy With Noninvasive Ventilation in Subjects With Upper-Airway Obstruction
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Ana Hernández Voth, Eva Arias Arias, Javier Sayas Catalán, Manel Lujan, Ignacio Jiménez Huerta, Pedro Benavides Mañas, Daniel López-Padilla, and Claudio Rabec
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Male ,Pulmonary and Respiratory Medicine ,Epiglottis ,medicine.medical_treatment ,Laryngoscopy ,Population ,Polysomnography ,Critical Care and Intensive Care Medicine ,03 medical and health sciences ,0302 clinical medicine ,Tongue ,Pressure ,medicine ,Humans ,education ,Aged ,Aged, 80 and over ,education.field_of_study ,Noninvasive Ventilation ,medicine.diagnostic_test ,business.industry ,Uvulopalatopharyngoplasty ,Masks ,General Medicine ,Middle Aged ,Airway obstruction ,medicine.disease ,Airway Obstruction ,medicine.anatomical_structure ,030228 respiratory system ,Anesthesia ,Breathing ,Female ,Noninvasive ventilation ,Palate, Soft ,business ,030217 neurology & neurosurgery - Abstract
BACKGROUND: Noninvasive ventilation (NIV) titration may be difficult when dynamic airway obstruction episodes persist, even with high expiratory positive airway pressure (EPAP). We aimed to determine the usefulness of videolaryngoscopy during NIV for identifying mechanisms and sites of obstruction and for providing a guide for their resolution in difficult-to-titrate subjects. METHODS: When obstructions during NIV were present in the built-in software, EPAP was raised to 12cm H2O. If obstructions persisted, a polygraphy during NIV was performed; if the events occurred with effort, a videolaryngoscopy with nasal and oronasal masks in awake subjects was performed. RESULTS: In a population of 208 subjects in whom NIV was initiated, 13 were identified as difficult to titrate with persistent obstructions during NIV despite an EPAP of 12cm H2O. Videolaryngoscopy during NIV was able to identify the mechanism and the site of obstruction in all cases. The obstruction under oronasal mask ventilation was due to soft-palate (velum) collapse in 4 subjects, to epiglottic backward movement in 5 other subjects, and to tongue-base obstruction reducing the retroglossal space in 3 more. Videolaryngoscopy during NIV demonstrated improvement in 9 subjects (69%) upon changing to nasal mask and suggested a possible surgical approach in 2 (15%); in one of these 2 subjects, a successful uvulopalatopharyngoplasty was performed. CONCLUSIONS: The use of videolaryngoscopy during NIV in difficult-to-titrate patients may help to identify the sites and mechanisms of obstruction and in some cases may improve quality of ventilation.
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- 2016
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15. Trombosis en el muñón arterial de cirugías de resección pulmonar: análisis de su presentación clínica, tratamiento y evolución
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Walther Ivan Giron Matute, Esteban Peghini Gavilanes, Iván Martínez Serna, Daniel López-Padilla, Marta Pérez Gallán, Adriana Manrique Mutiozabal, Annette Zevallos, Teresa Yolanda Revilla Ostolaza, Javier Sayas Catalán, Nuria Arenas Valls, María Dolores Trujillo, and Roberto Larrosa-Barrero
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Pulmonary and Respiratory Medicine ,Gynecology ,03 medical and health sciences ,medicine.medical_specialty ,0302 clinical medicine ,030228 respiratory system ,business.industry ,Medicine ,030204 cardiovascular system & hematology ,business - Abstract
Resumen Objetivo Determinar la prevalencia de trombosis de munon arterial (TMA) en cirugias de reseccion pulmonar por carcinoma broncogenico, y describir su evolucion radiologica y tratamiento. Material y metodos Estudio observacional y retrospectivo de casos de TMA detectados mediante angiotomografias con contraste intravenoso (TAC). La comparacion de variables clinicas, radiologicas, y el analisis de supervivencia mediante curvas de Kaplan-Meier, se realizo planteando 3 grupos: pacientes con TMA, pacientes con tromboembolismo pulmonar (TEP) y pacientes sin TMA ni TEP. Resultados Se detectaron 9 TMA en 473 cirugias (1,9%), 6 de ellas en el lado derecho (67% de las TMA), con una mediana de tiempo de deteccion desde la cirugia de 11,3 meses (rango intercuartilico 2,7-42,2 meses). Salvo el numero de TAC en pacientes con TMA comparados con el grupo sin TEP ni TMA, y la recidiva tumoral en pacientes con TEP en comparacion con los restantes 2 grupos, no se encontraron diferencias estadisticamente significativas en las caracteristicas basales ni en las oncologicas. Igualmente no se encontraron diferencias en el analisis de supervivencia. Conclusiones En nuestra serie, la TMA fue una patologia infrecuente que tendio a localizarse en las cirugias del lado derecho, y cuya deteccion a lo largo del tiempo fue variable. No se asocio a factores de riesgo previos a la cirugia ni tuvo predisposicion en relacion con la estirpe histologica, estadificacion oncologica o recidiva tumoral.
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- 2016
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16. Arterial Stump Thrombosis after Lung Resection Surgery: Clinical Presentation, Treatment and Progress
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Annette Zevallos, Marta Pérez Gallán, Adriana Manrique Mutiozabal, Iván Martínez Serna, María Dolores Trujillo, Roberto Larrosa-Barrero, Teresa Yolanda Revilla Ostolaza, Javier Sayas Catalán, Walther Ivan Giron Matute, Nuria Arenas Valls, Esteban Peghini Gavilanes, and Daniel López-Padilla
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Male ,medicine.medical_specialty ,Lung Neoplasms ,Computed Tomography Angiography ,medicine.medical_treatment ,Arterial Occlusive Diseases ,Kaplan-Meier Estimate ,030204 cardiovascular system & hematology ,digestive system ,03 medical and health sciences ,Pneumonectomy ,Postoperative Complications ,0302 clinical medicine ,Risk Factors ,Interquartile range ,Multidetector Computed Tomography ,Prevalence ,medicine ,Humans ,Lung cancer ,Survival analysis ,Aged ,Retrospective Studies ,Computed tomography angiography ,medicine.diagnostic_test ,business.industry ,Thrombosis ,General Medicine ,Middle Aged ,medicine.disease ,digestive system diseases ,Surgery ,Pulmonary embolism ,030228 respiratory system ,Platelet aggregation inhibitor ,Female ,Radiology ,Pulmonary Embolism ,business ,Platelet Aggregation Inhibitors ,Follow-Up Studies - Abstract
Objective To determine the prevalence of arterial stump thrombosis (AST) after pulmonary resection surgery for lung cancer and to describe subsequent radiological follow-up and treatment. Material and methods Observational, descriptive study of AST detected by computerized tomography angiography (CT) using intravenous contrast. Clinical and radiological variables were compared and a survival analysis using Kaplan–Meier curves was performed after dividing patients into 3 groups: patients with AST, patients with pulmonary embolism (PE), and patients without AST or PE. Results Nine cases of AST were detected after a total of 473 surgeries (1.9%), 6 of them in right-sided surgeries (67% of AST cases). Median time to detection after surgery was 11.3 months (interquartile range 2.7–42.2 months), and range 67.5 months (1.4–69.0 months). Statistically significant differences were found only in the number of CTs performed in AST patients compared to those without AST or PE, and in tumor recurrence in PE patients compared to the other 2 groups. No differences were found in baseline or oncological characteristics, nor in the survival analysis. Conclusions In this series, AST prevalence was low and tended to occur in right-sided surgeries. Detection over time was variable, and unrelated to risk factors previous to surgery, histopathology, and tumor stage or recurrence. AST had no impact on patient survival.
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- 2016
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17. Approach to Home Mechanical Ventilation Prevalence: Databases or Surveys?
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Javier Sayas Catalán and Manel Luján Torné
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Pulmonary and Respiratory Medicine ,Mechanical ventilation ,medicine.medical_specialty ,Ventilators, Mechanical ,business.industry ,medicine.medical_treatment ,General Medicine ,Critical Care and Intensive Care Medicine ,Home Care Services ,Respiration, Artificial ,03 medical and health sciences ,0302 clinical medicine ,030228 respiratory system ,Surveys and Questionnaires ,Emergency medicine ,Prevalence ,Medicine ,Humans ,030212 general & internal medicine ,business ,Developed country - Abstract
The prevalence of patients who receive mechanical ventilation at home is growing in developed countries. At the same time, and despite recommendations about the use of home mechanical ventilation in specific underlying conditions, geographic differences in patterns of use and variability in its
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- 2018
18. Obstructive sleep apnea-hypopnea syndrome in patients with severe chronic respiratory insufficiency
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Pedro Benavides Mañas, Victoria Villena Garrido, Trinidad Díaz Cambriles, Ana Hernández Voth, Javier Sayas Catalán, and Alicia de Pablo Gafas
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Adult ,Male ,medicine.medical_specialty ,medicine.medical_treatment ,Polysomnography ,Disease ,Severity of Illness Index ,03 medical and health sciences ,0302 clinical medicine ,Risk Factors ,Internal medicine ,medicine ,Prevalence ,Lung transplantation ,Humans ,Prospective Studies ,Aged ,COPD ,Sleep Apnea, Obstructive ,medicine.diagnostic_test ,business.industry ,Epworth Sleepiness Scale ,Middle Aged ,medicine.disease ,Obstructive sleep apnea ,030228 respiratory system ,Anesthesia ,Chronic Disease ,Observational study ,Female ,business ,Respiratory Insufficiency ,Hypopnea ,030217 neurology & neurosurgery - Abstract
Introduction and objective Although sleep disordered breathing is common in patients with a severe chronic respiratory insufficiency (SCRI), there is few information on its prevalence. Our aim was to describe the prevalence and characteristics of the obstructive sleep apnea-hypopnea syndrome (OSAHS) in these patients. Material and methods Prospective and observational study carried out on patients with a SCRI included in a waiting list for a lung transplantation and who had undergone a standard polysomnography. Results A total of 105 patients were examined, of which 85 met the study's inclusion criteria. The prevalence of the OSAHS was 24.7%, with 19% of cases being severe. The most common underlying respiratory condition was COPD (62%). The OSAHS was linked to the male gender (P = .002), weight (P = .013), BMI (P = .034) and neck circumference (P = .01). Although most patients experienced symptoms suggestive of an OSAHS, the average score obtained in the Epworth Sleepiness Scale was low. Conclusions We observed a high prevalence of OSAHS in patients with a SCRI but without clinical data suggestive of its diagnosis; hence, we believe that sleep studies should be carried out in these patients given the low pre-test clinical suspicion of the disease.
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- 2016
19. [Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data]
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María Angeles, García Teresa, Raquel, Porto Abal, Silvia, Rodríguez Torres, Diego, García Urabayen, Silvia, García Martínez, Ha, Trang, Angel, Campos Barros, Ana, Llorente de la Fuente, Arturo, Hernández González, Amaya, Bustinza Arriortua, Jesús, de la Cruz Moreno, Martí, Pons Odena, Purificación, Ventura Faci, Laura, Rubio Ortega, Estela, Pérez Ruiz, Antonio, Aguilar Fernández, Amaya, Pérez Ocón, Borja, Osona, Isabel, Delgado Pecellin, Ignacio, Arroyo Carrera, Javier, Sayas Catalán, Elvira, González Salas, and Carlos Martin, de Vicente
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Adult ,Male ,Adolescent ,Infant ,Hypoventilation ,Sleep Apnea, Central ,Europe ,Young Adult ,Cross-Sectional Studies ,Spain ,Child, Preschool ,Humans ,Female ,Registries ,Child - Abstract
Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015.The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school.The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques.
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- 2016
20. Use of Noninvasive Mechanical Ventilation in Lung Transplantation
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Pedro Benavides Mañas, Javier Sayas Catalán, and Ana Hernández Voth
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Mechanical ventilation ,Lung ,medicine.anatomical_structure ,business.industry ,medicine.medical_treatment ,Anesthesia ,medicine ,Intubation ,Lung transplantation ,Transplant patient ,Respiratory system ,business ,Ventilatory failure - Abstract
Noninvasive mechanical ventilation plays an important role in the management of lung transplant patients. It is useful as a bridge to lung transplantation. In the early postoperative period, it allows early extubation and prevents intubation and reintubation as a result of ventilatory failure; in the late postoperative period, it enables performing procedures in compromised respiratory patients.
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- 2016
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21. Pronóstico tras una agudización grave de la EPOC tratada con ventilación mecánica no invasiva
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Jose Echave-Sustaeta, Ricardo García Luján, Javier Sayas Catalán, Lorena Comeche Casanova, Agustin Gómez de la Cámara, and Ángel López Encuentra
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Pulmonary and Respiratory Medicine ,business.industry ,Medicine ,business ,Humanities - Abstract
Resumen Introduccion Los pacientes con EPOC que sobreviven a una exacerbacion grave que necesita ventilacion mecanica no invasiva son un grupo de mal pronostico. Objetivo Conocer las tasas de reingreso y mortalidad durante el ano siguiente a su alta y analizar los factores asociados a ambos desenlaces. Metodos Una cohorte de 93 pacientes con EPOC, que sobrevivieron a una exacerbacion de la EPOC que preciso ventilacion mecanica no invasiva, fue seguida tras el alta. Se midieron la necesidad de hospitalizacion por motivos respiratorios y la supervivencia, y se analizaron frente a posibles factores asociados a esos eventos mediante una regresion multivariante de riesgos proporcionales de Cox. Resultados Durante el ano siguiente al alta, 61 pacientes (66%) precisaron una nueva hospitalizacion. En el analisis multivariante, un valor bajo de FEV1 y una elevada estancia media durante la hospitalizacion se asociaron de forma independiente con un elevado riesgo de reingreso hospitalario. La probabilidad de supervivencia al ano fue de 0,695 (IC95%: 0,589–0,778). En el analisis multivariante la edad, la PaCO2 antes de iniciar la ventilacion mecanica no invasiva y los dias de hospitalizacion en el ano previo se asociaron de forma independiente con un elevado riesgo de mortalidad. Conclusiones Este grupo de pacientes con EPOC presenta una alta mortalidad y necesidad de rehospitalizacion en el ano siguiente al alta. Las variables estudiadas relacionadas con la gravedad de la enfermedad de base y de la propia agudizacion demostraron estar asociadas a esos eventos y podrian utilizarse para la aplicacion en este subgrupo de pacientes de programas especificos de seguimiento.
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- 2010
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22. Utilidad de la tomografía por emisión de positrones en la detección de metástasis ocultas extratorácicas en el carcinoma broncogénico no células pequeñas
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Mónica Coronado Poggio, Eduard Monsó Molas, Ricardo García Luján, Javier Sayas Catalán, Rodrigo Alonso Moralejo, and Ángel López Encuentra
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Pulmonary and Respiratory Medicine ,Gynecology ,medicine.medical_specialty ,business.industry ,medicine ,business - Abstract
Resumen Introduccion La tomografia de emision de positrones asociada a la tomografia axial computerizada (PET/TC) se utiliza en la estadificacion del carcinoma broncogenico no microcitico (CBNM). El objetivo de este trabajo es describir la utilidad de la PET/TC en la estadificacion clinica del CBNM para la deteccion de metastasis extratoracicas insospechadas en una poblacion operable con un tumor aparentemente resecable antes de la evaluacion ganglionar mediastinica pretoracotomia. Pacientes y metodo Estudio prospectivo y concurrente de todos los casos de CBNM recogidos entre junio 2004 y noviembre 2006, a los que se realizo una PET/TC tras considerar al paciente operable y al tumor resecable tras realizar broncoscopia, TC toracoabdominal, y TC cerebral o gammagrafia osea si hubiesen datos clinicos sugerentes de metastasis a esos niveles. La metastasis fueron confirmadas por evidencia citohistologica o por la evolucion. Resultados Se realizo una PET/TC a 91 pacientes con CBNM. En 24 pacientes (26%) se objetivo la existencia de, al menos, una captacion extratoracica. En 7 pacientes (7,7%) la captacion correspondio a una metastasis extratoracica del CBNM, oculta a la estadificacion convencional. En 3 casos (3,2%) la captacion extratoracica correspondio a lesiones premalignas o a un segundo tumor primario. En 12 pacientes (13,1%) el hallazgo correspondia a lesiones benignas, y finalmente en 2 casos (2,2%) no se pudo determinar el origen de la captacion. Conclusiones La PET/TC indicada en pacientes operables con CBNM potencialmente resecables supone un elemento diagnostico de utilidad en la deteccion de metastasis ocultas que afecta a la toma de decisiones terapeuticas.
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- 2010
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23. Use of Positron Emission Tomography in Assessing Hidden Extrathoracic Metastasis in Non Small Cell Lung Cancer
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Ricardo García Luján, Mónica Coronado Poggio, Eduard Monsó Molas, Javier Sayas Catalán, Rodrigo Alonso Moralejo, and Ángel López Encuentra
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Male ,medicine.medical_specialty ,Lung Neoplasms ,Computed tomography ,Metastasis ,Carcinoma, Non-Small-Cell Lung ,medicine ,Humans ,Prospective Studies ,Ct findings ,Lung cancer ,Aged ,medicine.diagnostic_test ,business.industry ,General Medicine ,medicine.disease ,respiratory tract diseases ,Bronchogenic carcinoma ,Positron emission tomography ,Positron-Emission Tomography ,Female ,Radiology ,Non small cell ,Tomography, X-Ray Computed ,Nuclear medicine ,business - Abstract
Positron emission tomography combined with computed axial tomography (PET/CT) is used for staging non small cell lung cancer (NSCLC). This study aims to describe PET/CT findings of unsuspected extrathoracic metastasis when used in mediastinal evaluation of patients with apparently resectable NSCLC.Prospective and concurrent study including all NSCLC patients between June 2004 and November 2006 who underwent PET/CT after considering them as candidates for surgery, with resectable disease after bronchoscopy, thorax and abdominal CT, brain CT and bone gammagraphy evaluation, if metastasis at these locations were suspected. Metastasis were confirmed histopathologically or assumed when they had a compatible evolution.A total of 91 patients with NSCLC underwent PET/CT. In 24 of them (26%) at least one suspicious extrathoracic uptake was seen. In 7 patients (7.7%) those uptakes were NSCLC extrathoracic metastasis hidden from conventional staging. In 3 of these cases (13.1%) extrathoracic uptakes corresponded to metacrhonous tumours or pre-malignant conditions. Benign lesions were found in 12 patients (13.1%), and in 2 cases (2.2%) the uptake origins were undetermined.PET/CT is a complementary diagnosis method for assessing hidden metastases which could modify the therapeutical approach in patients otherwise suitable for surgery.
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- 2010
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24. Prognosis Following Acute Exacerbation of COPD Treated With Non-invasive Mechanical Ventilation
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Jose Echave-Sustaeta, Agustin Gómez de la Cámara, Lorena Comeche Casanova, Ángel López Encuentra, Ricardo García Luján, and Javier Sayas Catalán
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Male ,medicine.medical_specialty ,Exacerbation ,medicine.medical_treatment ,Severity of Illness Index ,Positive-Pressure Respiration ,Pulmonary Disease, Chronic Obstructive ,Internal medicine ,Severity of illness ,medicine ,Humans ,Prospective Studies ,Prospective cohort study ,Survival rate ,Aged ,Mechanical ventilation ,COPD ,business.industry ,Mortality rate ,General Medicine ,Prognosis ,medicine.disease ,Survival Rate ,Acute Disease ,Cohort ,Female ,business - Abstract
Introduction Patients with chronic obstructive pulmonary disease (COPD) who survived an acute exacerbation with acute respiratory failure that required non-invasive mechanical ventilation (NIMV) are a group with a poor medium-term prognosis. Objective To identify re-admission and mortality rates within one year from discharge and to analyse factors associated with both events in a consecutive series of COPD patients treated with NIMV. Methods A cohort of 93 COPD patients who survived an acute exacerbation and who required NIMV was followed up after discharge. Re-admissions due to respiratory causes and survival were measured and the outcomes were analysed against possible factors associated to such events using multivariate Cox proportional risk regression analysis. Results Over the year following discharge, 61 patients (66 %) had to be re-admitted into hospital due to respiratory complications. Upon multivariate analysis, a low FEV 1 value in stable phase and a high average length of stay were associated independently with a high risk of hospital readmission. The probability of survival at 1 year was 0.695. Age, PaCO 2 prior to initiation of NIMV and the number of hospitalisation days in the previous year were associated independently with a high mortality risk. Conclusions This group of COPD patients has a high mortality rate and need for re-hospitalisation in the ensuing year following discharge. The variables relating to the severity of the baseline disease and the actual exacerbation have been shown to be associated with these events, and could be applied to this subgroup of patients in specific follow-up programs.
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- 2010
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25. Carcinoma bronquioloalveolar en España. Un cáncer de pulmón infrecuente y diferente
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Francisco Pozo Rodríguez, Victoria Villena, Javier Sayas Catalán, José Luis Martín de Nicolás, and Ángel López Encuentra
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Pulmonary and Respiratory Medicine ,Gynecology ,medicine.medical_specialty ,business.industry ,Medicine ,business - Abstract
Objetivo Describir una serie de casos de carcinoma bronquioloalveolar (CBA) tratados quirurgicamente por los 19 hospitales del Grupo Cooperativo de Carcinoma Broncogenico de la Sociedad Espanola de Neumologia y Cirugia Toracica (GCCB-S) entre 1993 y 1997. Pacientes y metodos Del total de 2.944 casos de carcinoma broncogenico no microcitico (CBNM), 82 (3%) eran CBA. Se compararon las caracteristicas clinicas y el ronostico de los CBA con los de los restantes 2.862 CBNM. Resultados Los CBA ocurren menos frecuentemente en varones (el 64,6 frente al 93,5%; p = 0,001), tienen menos comorbilidad en general (el 50 frente al 62%; p Conclusiones En Espana, entre los casos de cancer de pulmon operado, el CBA es muy infrecuente (3%) y presenta caracteristicas clinicas diferentes del resto de los CBNM. Controlando con los factores pronosticos mas basicos (estadio Ip y reseccion completa), la supervivencia del CBA es significativamente superior.
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- 2006
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26. Bronchioloalveolar Carcinoma in Spain: A Rare and Different Form of Lung Cancer
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Victoria Villena, Javier Sayas Catalán, Francisco Pozo Rodríguez, José Luis Martín de Nicolás, and Ángel López Encuentra
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Male ,Oncology ,medicine.medical_specialty ,Lung Neoplasms ,Gastroenterology ,Weight loss ,Internal medicine ,medicine ,Carcinoma ,Humans ,Stage (cooking) ,Lung cancer ,Aged ,Performance status ,business.industry ,General Medicine ,Adenocarcinoma, Bronchiolo-Alveolar ,Middle Aged ,medicine.disease ,Comorbidity ,Confidence interval ,respiratory tract diseases ,Spain ,Adenocarcinoma ,Female ,medicine.symptom ,business - Abstract
To describe a series of cases of bronchioloalveolar carcinoma (BAC) treated surgically between 1993 and 1997 in the 19 hospitals that make up the Bronchogenic Carcinoma Cooperative Group of the Spanish Society of Pulmonology and Thoracic Surgery (GCCB-S).From a total of 2,944 cases of non-small cell lung cancer (NSCLC), 82 (3%) were BAC. The clinical characteristics and prognosis of patients with BAC were compared with those of the remaining 2,862 patients with NSCLC.The percentage of men was lower for BAC than for other types of NSCLC (64.6% compared with 93.5%; P.001) and BAC was associated with less comorbidity (50% vs 62%; P.05), particularly in terms of chronic obstructive pulmonary disease (33% vs 47.2%; P.05). Other characteristics showing significant differences were the higher frequency of BAC as a chance finding and the lower likelihood of weight loss or reduced performance status at the time of diagnosis. Classification as stage cI was significantly more common in patients with BAC (87% vs 75%; P.001), and this difference between groups was more pronounced for stage pI (68.5% vs 47%; P.01). Only taking into account patients classified as stage pI with complete resection of NSCLC and following exclusion of operative mortality, patients with BAC presented an overall 5-year survival of 65% (95% confidence interval [CI], 51%-79%), compared with a significantly lower survival of 53% (95% CI, 50%-56%; P.05) in patients with other forms of NSCLC.In Spain, among cases of lung cancer treated by surgery, BAC is very rare (3%) and displays clinical characteristics that are different from other forms of NSCLC. Controlling for the most basic prognostic factors (stage pI and complete resection), survival is significantly higher for BAC.
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- 2006
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27. [Foreign body in the right lower lobe bronchus]
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Inés, Escribano Gimeno, Javier, Sayas Catalán, Ana, Ochoa Ruiz, and Eduardo, de Miguel Poch
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Male ,Humans ,Bronchi ,Foreign Bodies ,Aged - Published
- 2008
28. A 73-Year-Old Man with Interstitial Lung Disease Due to Dronedarone
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Javier Sayas Catalán, Régulo José Ávila Martínez, Carlos L. Peñalver Paolini, Pedro D. Benavides Mañas, Ana Hernández Voth, and María J. Díaz de Atauri Rodríguez
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Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,Lung ,business.industry ,Interstitial lung disease ,Atrial fibrillation ,Critical Care and Intensive Care Medicine ,medicine.disease ,Amiodarone ,Dronedarone ,medicine.anatomical_structure ,Internal medicine ,Cardiology ,Medicine ,business ,Anti-Arrhythmia Agents ,medicine.drug - Published
- 2012
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29. Aspiración de cuerpo extraño
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Eduardo de Miguel Poch, Ana Ochoa Ruiz, Inés Escribano Gimeno, and Javier Sayas Catalán
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business.industry ,Medicine ,General Medicine ,business ,Humanities - Published
- 2009
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30. Imagen de la semana
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Javier Sayas Catalán, Raul Moreno Zabaleta, Eduardo de Miguel Poch, and José Alfaro Abreu
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business.industry ,Medicine ,General Medicine ,business ,Humanities - Published
- 2005
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31. Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy
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Cristina Domínguez-González, Ana Hernandez-Voth, Javier Sayas Catalan, Marta Corral Blanco, Alba Castaño Mendez, Miguel Angel Martin, Carlos De Fuenmayor Fernandez de la Hoz, and Victoria Villena Garrido
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Medicine ,Diseases of the respiratory system ,RC705-779 - Abstract
Background Recessive mutations in the thymidinekinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation.Research question What is the impact of nucleosides in respiratory function in patients with TK2-deficient myopathy?Study design and methods Retrospective observational study of patients treated with deoxycytidine and deoxythymidine. Evaluations were performed every 3 to 4 months after treatment during approximately 30 months. Forced vital capacity (FVC), maximuminspiratory and expiratory pressures (MIP/MEP), sniff nasal inspiratory pressure (SNIP), cough peak flow (CPF), arterial blood gas and nocturnal pulse oximeter (SpO2) were collected.Results We studied six patients, five of which were women, with a median age at onset of symptoms was 35.8 (range 5 to 60) years old. Patients presented a restrictive ventilatory pattern (median FVC of 50 (26 to 71)%) and severe neuromuscular respiratory weakness (MIP 38 (12 to 47)% and SNIP 14 (8 to 19) cmH2O). Four patients required ventilatory support before starting the treatment. FVC improved by 6%, proportion of sleep time with SpO2
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- 2020
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32. Morbidity and mortality of serious gastrointestinal complications after lung transplantation
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Annette Zevallos-Villegas, Rodrigo Alonso-Moralejo, Félix Cambra, Ana Hermida-Anchuelo, Virginia Pérez-González, Pablo Gámez-García, Javier Sayas-Catalán, and Alicia De Pablo- Gafas
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Lung transplantation ,Surgical complication ,Gastrointestinal complications ,Mortality ,Surgery ,RD1-811 ,Anesthesiology ,RD78.3-87.3 - Abstract
Abstract Background Gastrointestinal complications after lung transplatation are associated with an increased risk of morbidity and mortality. This study aims to describe severe gastrointestinal complications (SGC) after lung transplantation. Methods We performed a prospective, observational study that included 136 lung transplant patients during a seven year period in a tertiary care universitary hospital. SGC were defined as any diagnosis related to the gastrointestinal or biliary tract leading to lower survival rates or an invasive therapeutic procedure. Early and late complications were defined as those occurring
- Published
- 2019
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