CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.

Abnormal development of the ocular anterior segment may lead to a spectrum of clinical phenotypes ranging from primary congenital glaucoma (PCG) to variable anterior segment dysgenesis (ASD). The main objective of this study was to identify the genetic alterations underlying recessive congenital glaucoma with ASD (CG-ASD). Next-generation DNA sequencing identified rare biallelic CPAMD8 variants in four patients with CG-ASD and in one case with PCG. CPAMD8 is a gene of unknown function and recently associated with ASD. Bioinformatic and in vitro functional evaluation of the variants using quantitative reverse transcription PCR and minigene analysis supported a loss-of-function pathogenic mechanism. Optical and electron microscopy of the trabeculectomy specimen from one of the CG-ASD cases revealed an abnormal anterior chamber angle, with altered extracellular matrix, and apoptotic trabecular meshwork cells. The CPAMD8 protein was immunodetected in adult human ocular fluids and anterior segment tissues involved in glaucoma and ASD (i.e., aqueous humor, non-pigmented ciliary epithelium, and iris muscles), as well as in periocular mesenchyme-like cells of zebrafish embryos. CRISPR/Cas9 disruption of this gene in F0 zebrafish embryos (96 hpf) resulted in varying degrees of gross developmental abnormalities, including microphthalmia, pharyngeal maldevelopment, and pericardial and periocular edemas. Optical and electron microscopy examination of these embryos showed iridocorneal angle hypoplasia (characterized by altered iris stroma cells, reduced anterior chamber, and collagen disorganized corneal stroma extracellular matrix), recapitulating some patients' features. Our data support the notion that CPAMD8 loss-of-function underlies a spectrum of recessive CG-ASD phenotypes associated with extracellular matrix disorganization and provide new insights into the normal and disease roles of this gene.

[Resection of pulmonary metastases in 148 patients: analysis of prognostic factors]. / Cirugía de metástasis pulmonares en 148 pacientes. Análisis de sus factores pronósticos.

OBJECTIVE: To evaluate the prognostic factors for survival in a series of patients who underwent surgery for pulmonary metastases from primary tumors in distinct organs. PATIENTS AND METHODS: This was a retrospective study of 148 patients operated between May 2001 and May 2007. Multivariate analysis was used to evaluate overall survival. Patients scheduled for tumorectomy were included provided their primary tumor was controlled and they had no extrathoracic recurrence and adequate cardiorespiratory function. The influence of the following prognostic factors was analyzed: number and diameter of the metastases, lymph node infiltration, complete resection, and, above all, histological type. A significance level of 95% was used. RESULTS: A total of 90 men (60.81%) and 58 women (39.19%) were operated. The mean (SD) age was 56.5 (9.7) years. The actuarial survival at 6 years was 30.3% (n=45) and the median survival was 34 months. The factors that affected survival were the number of metastases (P< .05), diameter of the lesions (P< .05), lymph node infiltration (P< .05), complete resection (P< .05), and, above all, histological type (P< .05). Tumorectomy was the most commonly performed operation. CONCLUSIONS: These results suggest that, in the absence of other therapeutic options and contraindications, we should operate on patients in whom the primary tumor is controlled and in whom complete resection can be performed. Even if factors associated with poor prognosis are present, the outcomes are always better than when surgery is not performed, particularly in view of the relatively low morbidity and mortality associated with this type of surgery.

Resultados de la Neumonectomía en el Cáncer de Pulmón no Microcítico: Estudio Unicéntrico de Morbi-Mortalidad / Results of Pneumonectomy in Non-Small Cell Lung Cancer: Single Center Study of Morbi-Mortality

Resumen abreviado: Estudio de la morbi-mortalidad de la neumonectomía por Cáncer de pulmón en nuestro centro durante 2012-2017. La morbilidad <90días y mortalidad <90días global fue 38,4% y 17%. La morbilidad y mortalidad son mayores en lado derecho. Durante último trienio disminuyó la morbi-mortalidad y el número de neumonectomías por año (5,3%).Introducción: Presentamos este trabajo para analizar la morbi-mortalidad de la neumonectomía en nuestro centro, así como los factores que influyen en la misma, mostrando nuestros resultados en el tiempo en dos períodos: 2012-2014 y 2015-2017.Material y métodos: Se trata de un estudio analítico y observacional retrospectivo de todas las neumonectomías por Cáncer de pulmón no células pequeñas (CPNCP) intervenidas durante 2012-2017. Se ha analizado la morbi-mortalidad de toda la muestra según lateralidad, FEV1, estadio, edad y sistema de sutura. También se ha estudiado la morbi-mortalidad durante: 2012-2014 y 2015-2017. El análisis estadístico se realizó con el software SPSS versión 26.Resultados: Se realizaron 65 neumonectomías (izquierdas: 39 y derechas: 26) en pacientes con el diagnóstico de CPNCP. La morbilidad <90días fue del 38,4% (25/65). El porcentaje de complicaciones en el lado derecho y en los pacientes con FEV1 <80% fue 46%, en estadio avanzado 50%, pacientes >75años 77% y neumonectomías con sistema de sutura TA-roticulator 50%. La mortalidad <90días global fue un 17% (11/65). La mortalidad de las neumonectomías en los pacientes con FEV1 <80% fue 18%, el lado derecho 30,7%, en estadio avanzado 22,2%, pacientes >75años 22% y neumonectomías con sistema de sutura TA-roticulator 28%. El análisis por períodos reveló una morbilidad (27,5%) y mortalidad (6,8%) más baja en último trienio y menor número de neumonectomías por año (5,3%). (AU)

Resumen abreviado: Study of the morbidity and mortality of pneumonectomy for lung cancer in our center during 2012-2017. Overall morbidity <90 days and mortality <90 days were 38.4% and 17%. Morbidity and mortality are higher on the right side. During the last triennium, morbidity and mortality and the number of pneumonectomies per year decreased (5.3%).Introduction: We present this work to analyze the morbidity and mortality of pneumonectomy in our center, as well as the factors that influence it, showing our results over time in two periods: 2012-2014 and 2015-2017.Material and methods: This is a retrospective analytical and observational study of all pneumonectomies for non-small cell lung cancer (NSCLC) operated during 2012-2017. The morbi-mortality of the entire sample was analyzed according to laterality, FEV1, stage, age and suture system. Morbi-mortality has also been studied during: 2012-2014 and 2015-2017. Statistical analysis was performed with SPSS version 26 software.Results: 65 pneumonectomies were performed (left: 39 and right: 26) in patients diagnosed with NSCLC. Morbidity <90 days was 38.4% (25/65). The percentage of complications on the right side and in patients with FEV1 <80% was 46%, in advanced stage 50%, patients >75 years old 77% and pneumonectomies with TA-roticulator suture system 50%. Overall <90-day mortality was 17% (11/65). Mortality of pneumonectomies in patients with FEV1 <80% was 18%, right side 30.7%, advanced stage 22.2%, patients >75 years old 22%, and pneumonectomies with TA-roticulator suture system 28%. The analysis by periods revealed a lower morbidity (27.5%) and mortality (6.8%) in the last triennium and a lower number of pneumonectomies per year (5.3%). (AU)

Executive summary of the SEPAR recommendations for the diagnosis and treatment of non-small cell lung cancer. / Sumario ejecutivo de las recomendaciones SEPAR de diagnóstico y tratamiento del cáncer de pulmón de células no pequeñas.

The Thoracic Surgery and Thoracic Oncology groups of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) have backed the publication of a handbook on recommendations for the diagnosis and treatment of non-small cell lung cancer. Due to the high incidence and mortality of this disease, the best scientific evidence must be constantly updated and made available for consultation by healthcare professionals. To draw up these recommendations, we called on a wide-ranging group of experts from the different specialties, who have prepared a comprehensive review, divided into 4 main sections. The first addresses disease prevention and screening, including risk factors, the role of smoking cessation, and screening programs for early diagnosis. The second section analyzes clinical presentation, imaging studies, and surgical risk, including cardiological risk and the evaluation of respiratory function. The third section addresses cytohistological confirmation and staging studies, and scrutinizes the TNM and histological classifications, non-invasive and minimally invasive sampling methods, and surgical techniques for diagnosis and staging. The fourth and final section looks at different therapeutic aspects, such as the role of surgery, chemotherapy, radiation therapy, a multidisciplinary approach according to disease stage, and other specifically targeted treatments, concluding with recommendations on the follow-up of lung cancer patients and surgical and endoscopic palliative interventions in advanced stages.

Manejo de fístula broncopleural mediante colocación del dispositivo Amplatzer(R) / Bronchopleural Fistula Management with Amplatzer(TM) Insertion

No disponible

Recomendaciones SEPAR de diagnostico y tratamiento del cancer de pulmón de celulas no pequeñas / Recommendations of the Spanish Society of Pneumology and Thoracic Surgery on the diagnosis and treatment of non-small-cell lung cancer

No disponible

Sumario ejecutivo de las recomendaciones SEPAR de diagnóstico y tratamiento del cáncer de pulmón de células no pequeñas / Executive summary of the SEPAR recommendations for the diagnosis and treatment of non-small cell lung cancer

La Sociedad Española de Neumología y Cirugía Torácica (SEPAR), a través de las áreas de Cirugía Torácica y de Oncología Torácica, ha promovido la realización de un manual de recomendaciones para el diagnóstico y el tratamiento del cáncer de pulmón de células no pequeñas. Las elevadas incidencia y mortalidad de esta patología hacen necesaria una constante actualización de las mejores evidencias científicas para su consulta por parte de los profesionales de la salud. Para su confección se ha contado con un amplio grupo de profesionales de distintas especialidades que han elaborado una revisión integral, que se ha concretado en 4 apartados principales. En el primero se ha estudiado la prevención y el cribado de la enfermedad, incluyendo los factores de riesgo, el papel de la deshabituación tabáquica y el diagnóstico precoz mediante programas de cribado. En un segundo apartado se ha analizado la presentación clínica, los estudios de imagen y el riesgo quirúrgico, incluyendo el cardiológico y la evaluación funcional respiratoria. Un tercero trata sobre los estudios de confirmación cito-histológica y de estadificación, con un análisis de las clasificaciones TNM e histológica, métodos no invasivos y mínimamente invasivos, así como las técnicas quirúrgicas para el diagnóstico y estadificación. En un cuarto y último capítulo se han abordado aspectos del tratamiento, como el papel de las técnicas quirúrgicas, la quimioterapia, la radioterapia, el abordaje multidisciplinar por estadios y otros tratamientos dirigidos frente a dianas específicas, terminando con recomendaciones acerca del seguimiento del cáncer de pulmón y los tratamientos paliativos quirúrgicos y endoscópicos en estadios avanzados

The Thoracic Surgery and Thoracic Oncology groups of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) have backed the publication of a handbook on recommendations for the diagnosis and treatment of non-small cell lung cancer. Due to the high incidence and mortality of this disease, the best scientific evidence must be constantly updated and made available for consultation by healthcare professionals. To draw up these recommendations, we called on a wide-ranging group of experts from the different specialties, who have prepared a comprehensive review, divided into 4 main sections. The first addresses disease prevention and screening, including risk factors, the role of smoking cessation, and screening programs for early diagnosis. The second section analyzes clinical presentation, imaging studies, and surgical risk, including cardiological risk and the evaluation of respiratory function. The third section addresses cytohistological confirmation and staging studies, and scrutinizes the TNM and histological classifications, non-invasive and minimally invasive sampling methods, and surgical techniques for diagnosis and staging. The fourth and final section looks at different therapeutic aspects, such as the role of surgery, chemotherapy, radiation therapy, a multidisciplinary approach according to disease stage, and other specifically targeted treatments, concluding with recommendations on the follow-up of lung cancer patients and surgical and endoscopic palliative interventions in advanced stages

Cirugía de metástasis pulmonares en 148 pacientes. Análisis de sus factores pronósticos / Resection of pulmonary metastases in 148 Patients: analysis of prognostic factors

OBJETIVO: Evaluar los factores pronósticos de supervivenciaen una serie de pacientes intervenidos por metástasispulmonares de diferentes tumores y órganos.PACIENTES Y MÉTODOS: Se ha realizado un estudio retrospectivode 148 pacientes intervenidos entre mayo de 2001 ymayo de 2007, y se ha aplicado un análisis multivariantepara valorar la supervivencia global. Los criterios de inclusiónfueron: control del tumor primario, sin recurrencia extratorácicay función cardiorrespiratoria suficiente, siemprecon intención de tumorectomía. Se valoró qué influencia teníanen el pronóstico los siguientes factores: número de metástasis,diámetro de éstas, adenopatías invadidas, cirugíacompleta y, sobre todo, tipo histológico, para un nivel de significacióndel 95%.RESULTADOS: En total se intervino a 90 varones (60,81%)y 58 mujeres (39,19%). La edad media ± desviación estándarera de 56,5 ± 9,7 años. Se obtuvo una supervivencia actuariala 6 años del 30,3% (n = 45), con una mediana de supervivenciade 34 meses. Los factores que influyeron en elpronóstico fueron el número de metástasis (p < 0,05), el diámetrode éstas (p < 0,05), la presencia de adenopatías invadidas(p < 0,05), la cirugía completa (p < 0,05) y, sobre todo,el tipo histológico (p < 0,05). La tumorectomía fue la intervenciónmás realizada.CONCLUSIONES: Los resultados avalan que aceptemos paratratamiento quirúrgico a los pacientes sin otra posibilidadterapéutica a quienes pueda realizarse una resección completa,que tengan el tumor primario controlado y no presentenotras contraindicaciones, pues, aunque en presencia deciertos factores empeora la supervivencia, los resultados sonsiempre mejores que con la abstención quirúrgica, máximesi se tienen en cuenta las cifras relativamente bajas de morbilidady mortalidad con este tipo de cirugía

OBJECTIVE: To evaluate the prognostic factors for survivalin a series of patients who underwent surgery for pulmonarymetastases from primary tumors in distinct organs.PATIENTS AND METHODS: This was a retrospective study of148 patients operated between May 2001 and May 2007.Multivariate analysis was used to evaluate overall survival.Patients scheduled for tumorectomy were included providedtheir primary tumor was controlled and they had noextrathoracic recurrence and adequate cardiorespiratoryfunction. The influence of the following prognostic factorswas analyzed: number and diameter of the metastases, lymphnode infiltration, complete resection, and, above all,histological type. A significance level of 95% was used.RESULTS: A total of 90 men (60.81%) and 58 women(39.19%) were operated. The mean (SD) age was 56.5 (9.7)years. The actuarial survival at 6 years was 30.3% (n=45) andthe median survival was 34 months. The factors that affectedsurvival were the number of metastases (P<.05), diameter ofthe lesions (P<.05), lymph node infiltration (P<.05), completeresection (P<.05), and, above all, histological type (P<.05).Tumorectomy was the most commonly performed operation.CONCLUSIONS: These results suggest that, in the absence ofother therapeutic options and contraindications, we shouldoperate on patients in whom the primary tumor is controlledand in whom complete resection can be performed. Even iffactors associated with poor prognosis are present, theoutcomes are always better than when surgery is notperformed, particularly in view of the relatively low morbidityand mortality associated with this type of surgery