Unknown parent groups and truncated pedigree in single-step genomic evaluations of Murrah buffaloes.

Missing pedigree may produce bias in genomic evaluations. Thus, strategies to deal with this problem have been proposed as using unknown parent groups (UPG) or truncated pedigrees. The aim of this study was to investigate the impact of modeling missing pedigree under ssGBLUP evaluations for productive and reproductive traits in dairy buffalos using different approaches: 1) traditional BLUP without UPG (BLUP), 2) traditional BLUP including UPG (BLUP/UPG), 3) ssGBLUP without UPG (ssGBLUP), 4) ssGBLUP including UPG in the A and A22 matrices (ssGBLUP/A_UPG), 5) ssGBLUP including UPG in all elements of the H matrix (ssGBLUP/H_UPG), 6) BLUP with pedigree truncation for the last 3 generations (BLUP/truncated), and 7) ssGBLUP with pedigree truncation for the last 3 generations (ssGBLUP/ truncated). UPGs were not used in the scenarios with truncated pedigree. A total of 3,717, 4,126 and 3,823 records of the first lactation for accumulated 305 d milk yield (MY), age at first calving (AFC) and lactation length (LL), respectively were used. Accuracies ranged from 0.27 for LL (BLUP) to 0.46 for MY (BLUP), bias ranged from -0.62 for MY (ssGBLUP) to 0.0002 for AFC (BLUP/truncated), and dispersion ranged from 0.88 for MY (BLUP/ A_UPG) to 1.13 for LL (BLUP). Genetic trend showed genetic gains for all traits across 20 years of selection and the impact of including either genomic information, UPG or pedigree truncation under GEBV accuracies ranged among the evaluated traits. Overall, methods using UPGs, truncation pedigree and genomic information exhibited potential to improve GEBV accuracies, bias and dispersion for all traits compared with other methods. Truncated scenarios promoted high genetic gains. In small populations with few genotyped animals, combining truncated pedigree or UPG with genomic information is a feasible approach to deal with missing pedigrees.

Características clínicas y resultados de pacientes con fibrosis quística con enfermedad pulmonar avanzada: experiencia en 10 años del Instituto Nacional del Tórax / Clinical features and outcomes of cystic fibrosis patients with advanced lung disease: experience of 10 years at the Instituto Nacional del Tórax

La enfermedad pulmonar avanzada (EPAV) es la principal causa de morbimortalidad en pacientes con Fibrosis Quística (FQ). Objetivo: describir características clínicas de pacientes con FQ con EPAV y mortalidad en el seguimiento. Método: Estudio descriptivo, retrospectivo de pacientes con FQ y EPAV: VEF1 4 años de vida. Un 75% era portador de infección crónica por Pseudomonas. Un 68% era dependiente de oxígeno y un 18% de ventilación mecánica no invasiva. El 70 % tuvo 2 o más hospitalizaciones el último año de seguimiento. De 27 pacientes derivados a trasplante, 7 se trasplantaron, 3 fallecieron en lista para trasplante, 9 presentaron alguna contraindicación: 4 de ellos por desnutrición y 5 por mala adherencia y escasa red de apoyo. En el seguimiento un 32% (n = 14) falleció, 93% de causa respiratoria. Conclusión: Un 39% de los pacientes tenían EPAV cuyo diagnóstico de FQ en promedio fue a los 11,2 años (SD ± 13 a). Las barreras de ingreso a lista para trasplante fueron: desnutrición, mala adherencia y falta de red de apoyo. Esta es una población con una elevada mortalidad.

Advanced cystic fibrosis lung disease (ACFLD) is the leading cause of morbidity and mortality in patients with Cystic Fibrosis (CF). Objective: to describe clinical characteristics of patients with CF with ACFLD and mortality during follow-up. Method: Descriptive, retrospective study of patients with CF and ACFLD: FEVi < 40%, oxygen dependent, and/or referred to a lung transplantprogram. Clinical, microbiological, functional, genetic and mortality characteristics were collected. Results: Of 111 controlled patients, 39% met criteria for ACFLD. 52% were men and the mean age was 29,8 years- old. The average BMI was 19.9 kg/m2, 72% had pancreatic insufficiency and 87% had a genetic study, being the DF508 mutation the most frequent (67%). The average age of diagnosis was 11.2 years (SD ± 13 years), being in 54,5% over the age of 4 years. 75% had chronic Pseudomonas infection. 68% were oxygen dependent and 18% on noninvasive mechanical ventilation. In the last year of follow-up 70% had 2 or more hospitalizations. Of 27 patients who have been referred for transplantation, 7 underwent lung transplantation, 3 died waiting on the transplant list, 9 had contraindications: 4 due to malnutrition and 5 to poor adherence and poor support network. 32% (n = 14) of the ACFLD patients died, 93% due to respiratory causes. Conclusion: 39% of the patients had ACFLD. The average age for CF diagnosis was 11.2 years (SD ± 13 years) Barriers to entering the transplant list are: malnutrition, poor adherence, and lack of a support network. This is a population with a high mortality.

[Content validation for the Chilean population of the quality of life assessment instrument in children, adolescents and adults with Cystic Fibrosis: CFQ-R CYSTIC FIBROSIS QUESTIONNAIRE-REVISED version in Spanish, Chile]. / Validación de contenido del instrumento de evaluación de calidad de vida en niños, adolescentes y adultos con Fibrosis Quística: CFQ-R CYSTIC FIBROSIS QUESTIONNAIRE-REVISED versión en español, Chile.

INTRODUCTION: Cystic Fibrosis (CF) is the most frequent chronic hereditary disease in the white race. Although the impact on the quality of life of this disease is significant, there are no validated instruments in the Chilean population to measure it. OBJECTIVE: To carry out a cultural and linguistic adaptation and validate the content and reliability of the CFQ-R Cystic Fibrosis Questionnaire, Spanish version 2.0. PATIENTS AND METHOD: The process was carried out in two stages. The first stage consists of an ins trumental design to adapt it culturally and linguistically, evaluate content validity by consulting ex perts, and test the comprehension of the questionnaire in patients and parents through qualitative interviews and a focus group. In the second stage with an observational and cross-sectional design in a sample of 122 people with CF or their caregivers, the behavior of the questionnaire was analyzed using descriptive statistics and Cronbach's alpha for reliability. RESULTS: Stage 1: the instrument in its three versions is considered valid with Lynn's index > 0.8 and Validity Coefficient > 0.7. Stage 2: The adolescent/adult and parent/caregiver versions obtain Cronbach's a > 0.7 and an average > 3 in most dimensions. CONCLUSION: The questionnaire is adapted and validated in the Chilean population and requires minor modifications. This version is reliable, valid, and allows the assessment of the quality of life in people with CF. It is suggested to increase the sample for the analysis of construct validity with a larger number of patients.

Can Specular Gloss Measurements Predict the Effectiveness of Finishing/Polishing Protocols in Dental Polymers? A Systematic Review and Linear Mixed-effects Prediction Model.

PURPOSE: The current gold standard measure to assess polishing efficacy is surface roughness (SR) assessed in laboratory research. Specular gloss (SG) has been negatively correlated to SR, which raises the following question: Can SG be used to accurately determine the effectiveness of a finishing/polishing procedure in direct resin composites? METHODS: A systematic approach and search strategy, following Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines, was developed and conducted in five electronic databases: PubMed/Medline, Scopus, Web of Science, EMBASE (Ovid), and SciELO/LILACS to identify laboratory studies that assessed SR and SG, simultaneously, of resin composites, without date or language restriction. Risk of bias assessment was carried out by two reviewers, independently. From the extracted quantitative data of SG/SR, regression analyses were performed, and a linear mixed-effects prediction model was derived using the nimble package in R (v4.0.3). RESULTS: A total of 928 potential studies were found, out of which, 13 were eligible after criterion screening. Experimental groups featured 31 resin composites of six different filler types, with the most common being microhybrids followed by nanohybrids. More than half of the studies initially reported a linear correlation between SR and SG, which ranged from r2 = 0.34-0.96. Taking into account the regression analysis and prediction model posteriorly performed, the corresponding SG threshold for 0.2 µm is estimated to be >55 GU. Most of the evidence was classified as moderate or high risk of bias. CONCLUSION: SG is universally correlated to SR in polymers, and a reference value of >55 GU is proposed, above which samples are considered well polished.

Pioneer women in the development of toxicology in Brazil.

Women have always played an important role in the development of toxicology all over the world. Specifically in Brazil, toxicology has had greater female representation than other countries, but women's participation at high hierarchical levels is low. Although more than 62% of the members of the Brazilian Society of Toxicology are women, only 7 out of the 22 presidents have been women throughout its 48 years of existence. This article aims to celebrate women in the field of toxicology in Brazil, based on interviews with five of these scientists who have changed the field of toxicology in Brazil as we know it today, each in their specific sub-areas. These women are: Dr. Ester de Camargo Fonseca Moraes, Dr. Silvia Berlanga de Moraes Barros, Dr. Alice Aparecida da Matta Chasin, Dr. Gisela de Aragão Umbuzeiro, and Dr. Tania Marcourakis. They are not only pioneers but they are also examples of admirable persistence in fighting the adversities presented to them. They broke the glass ceiling and opened doors for future generations of women in science. We hope that this article helps inspire women in their careers in toxicology.

Experiencia en trasplante pulmonar pediátrico en Chile / Experience with pediatric lung transplantation in Chile

El trasplante de pulmón (TP) es una opción para pacientes pediátricos con enfermedades pulmonares terminales. OBJETIVO: Evaluar resultados y sobrevida de pacientes pediátricos trasplantados de pulmón. MÉTODOS: Análisis retrospectivo de registros clínicos de pacientes TP ≤ 15 años de Clínica Las Condes. Se analizaron datos demográficos, tipo de trasplante, función pulmonar basal y post trasplante, complicaciones precoces y tardías y sobrevida. RESULTADOS: Nueve pacientes < 15 años de edad se han trasplantado. La edad promedio fue 12,7 años. La principal indicación fue fibrosis quística (7 pacientes). El IMC promedio fue de 17,6 y todos estaban con oxígeno domiciliario. El 77% utilizó soporte extracorpóreo intraoperatorio. Las principales complicaciones precoces fueron hemorragia y la disfunción primaria de injerto mientras que las tardías fueron principalmente las infecciones y la disfunción crónica de injerto. Cuatro pacientes han fallecido y la sobrevida a dos años fue de 85%. El trasplante les permitió una reinserción escolar y 3 lograron completar estudios universitarios. CONCLUSIÓN: El trasplante pulmonar es una alternativa para niños con enfermedades pulmonares avanzadas mejorando su sobrevida y calidad de vida.

Lung transplantation (TP) is a treatment option in children with terminal lung diseases. OBJECTIVE: To evaluate the results and survival of pediatrics lung transplant patients. METHODS: Retrospective analysis of clinical records of lung transplantation of patients ≤ 15 years from Clínica Las Condes, Santiago, Chile. Demographic data, type of transplant, baseline and post transplant lung function, early and late complications and survival rate were analyzed. RESULTS: Nine patients ≤ 15 years-old were transplanted. The average age at transplant was 12.7 years. The main indication was cystic fibrosis (7 patients). The average BMI was 17.6 and all the patients were with home oxygen therapy. 77% used extracorporeal intraoperative support. Average baseline FEV1 was 25.2% with progressive improvement in FEV1 of 77% in the first year. The main early complications were hemorrhage and primary graft dysfunction, while late complications were infections and chronic graft dysfunction. Four patients have died and the estimated 2 years survival was 85%. They achieved school reinsertion and three managed to complete university studies. CONCLUSION: Lung transplantation is an alternative for children with advanced lung diseases improving their survival and quality of life.

Caracterización clínica y tomográfica de pacientes hospitalizados con COVID-19 / Clinical and tomographic characterization of patients hospitalized with COVID-19

OBJETIVO: Realizar una caracterización clínica y por imágenes a pacientes hospitalizados por COVID-19 y analizar si existen predictores de riesgo asociados con una mayor gravedad. MÉTODO: Estudio observacional, retrospectivo. Se incluyeron pacientes hospitalizados con COVID-19, entre abril y julio de 2020. Se registraron datos demográficos, comorbilidades, exámenes de laboratorio, tipo de compromiso en tomografía computada (TC) de tórax, terapias recibidas y tipo de soporte respiratorio. En el análisis estadístico para identificar factores de riesgo se utilizó test χ2 de Pearson o test de Fisher para comparar variables categóricas y test de Mann-Whitney para comparar variables continuas. RESULTADOS: Se analizaron 164 pacientes. La mediana de edad fue de 57 años (rango 21 a 89). 111 pacientes (68%) de género masculino y mediana de 7 días de síntomas previo al ingreso (rango 1 a 23). 68 pacientes (41%) tienen obesidad (significativamente mayor en pacientes < 60 años, p = 0,026), 56 (34%) hipertensión arterial (HTA) y 43 (26%) diabetes. El patrón predominante en la TC de ingreso fue de vidrio esmerilado (VE) con "crazy paving" (35%) y luego VE puro (28%). Como indicador de gravedad se tomó en cuenta el tipo de soporte ventilatorio requerido: 51 pacientes (31%) requieren soporte ventilatorio no invasivo (cánula nasal de alto flujo o VMNI) y 19 (11%) ventilación invasiva (VMI). Las variables predictoras de gravedad, estadísticamente significativas, fueron: HTA (p = 0,001), Diabetes Mellitus (p = 0,001) y Obesidad. (p = 0,002). CONCLUSIONES: Los pacientes hospitalizados por COVID 19 con mayor riesgo de evolución tórpida, del punto de vista respiratorio, fueron los pacientes obesos, hipertensos y diabéticos.

OBJECTIVE: To perform a clinical and imaging characterization in patients hospitalized for COVID-19 and to analyze whether there are risk predictors associated with greater severity of the condition. METHOD: Observational, retrospective study. Patients hospitalized with COVID-19 were included between April and July 2020. Demographic data, comorbidities, laboratory tests, tomographic pattern in thorax tomography (TC), therapies received, and type of respiratory support were recorded. In the statistical analysis to identify risk factors, we used Pearson's χ2 test or Fisher's test to compare categorical variables and Mann-Whitney test to compare continuous variables. RESULTS: 164 patients were analyzed. Median age was 57 years (21 to 89). 111 patients (68%) were male and a median of 7 days of symptoms prior to admission (1 to 23). 68 patients (41%) have obesity (significantly higher in patients < 60 years, p = 0.026), 56 (34%) arterial hypertension (HT) and 43 (26%) with diabetes mellitus. The predominant pattern in the admission CT scan was ground glass opacity (GGO) with "crazy paving" (35%) and then pure GGO (28%). Type of ventilatory support required was considered as an indicator of severity. 51 patients (31%) require non-invasive ventilatory support (high-flow nasal cannula or NIMV) and 19 (11%) invasive ventilation (IMV). The statistically significant predictor variables of severity were HT (p = 0.001), Diabetes Mellitus (p = 0.001) and Obesity. (p = 0.002). CONCLUSIONS: Patients hospitalized for COVID 19 with the highest risk of respiratory torpid evolution were obese, hypertensive and diabetic patients

Influence of Urban Landscape on Ants and Spiders Richness and Composition in Forests.

As large amounts of natural environments are lost due to urbanization, the role of remnant native vegetation in the preservation of biodiversity has become even more significant. Remnant native forest patches are essential refugia for flora and fauna and are crucial for the maintenance of ecosystem processes in urbanized landscapes. We evaluated the influence of landscape structure on ants and spiders associated with Atlantic Forest remnants in urban landscapes. We sampled 14 forest areas in the Metropolitan Region of Salvador and tested the effect of the landscapes' proportion of forest cover, mean landscape isolation, and mean landscape shape complexity on the taxonomic and functional richness and the community composition of both groups. The species collected were classified into functional groups based on behavioral attributes and environmental preferences. Overall, there were strong adverse effects of forest loss, decreased connectivity, and an increase in edge effects associated with the mean shape complexity of the forest remnants. However, the spiders responded to all three landscape structure characteristics whereas the ants only responded to the landscape mean shape complexity. Our findings indicate that the maintenance of urban forest habitats is essential for the conservation of biodiversity in the Metropolitan Region of Salvador and the preservation of ecological functions performed by species within the forest areas.

Pioneer women in the development of toxicology in Brazil

Women have always played an important role in the development of toxicology all over the world. Specifically in Brazil, toxicology has had greater female representation than other countries, but women's participation at high hierarchical levels is low. Although more than 62% of the members of the Brazilian Society of Toxicology are women, only 7 out of the 22 presidents have been women throughout its 48 years of existence. This article aims to celebrate women in the field of toxicology in Brazil, based on interviews with five of these scientists who have changed the field of toxicology in Brazil as we know it today, each in their specific sub-areas. These women are: Dr. Ester de Camargo Fonseca Moraes, Dr. Silvia Berlanga de Moraes Barros, Dr. Alice Aparecida da Matta Chasin, Dr. Gisela de Aragão Umbuzeiro, and Dr. Tania Marcourakis. They are not only pioneers but they are also examples of admirable persistence in fighting the adversities presented to them. They broke the glass ceiling and opened doors for future generations of women in science. We hope that this article helps inspire women in their careers in toxicology.

Influence of urban landscape on ants and spiders richness and composition in forests

As large amounts of natural environments are lost due to urbanization, the role of remnant native vegetation in the preservation of biodiversity has become even more significant. Remnant native forest patches are essential refugia for flora and fauna and are crucial for the maintenance of ecosystem processes in urbanized landscapes. We evaluated the influence of landscape structure on ants and spiders associated with Atlantic Forest remnants in urban landscapes. We sampled 14 forest areas in the Metropolitan Region of Salvador and tested the effect of the landscapes’ proportion of forest cover, mean landscape isolation, and mean landscape shape complexity on the taxonomic and functional richness and the community composition of both groups. The species collected were classified into functional groups based on behavioral attributes and environmental preferences. Overall, there were strong adverse effects of forest loss, decreased connectivity, and an increase in edge effects associated with the mean shape complexity of the forest remnants. However, the spiders responded to all three landscape structure characteristics whereas the ants only responded to the landscape mean shape complexity. Our findings indicate that the maintenance of urban forest habitats is essential for the conservation of biodiversity in the Metropolitan Region of Salvador and the preservation of ecological functions performed by species within the forest areas.

Consenso chileno para la atención integral de niños y adultos con fibrosis quística

Resumen La Fibrosis Quística (FQ) es la enfermedad hereditaria de pronóstico reservado más frecuente en raza blanca. Desde el año 2003, Chile inicia un Programa Nacional de Fibrosis Quística, de carácter integral, dirigido por la Unidad de Salud Respiratoria del Ministerio de Salud. Hasta la fecha, los principales resultados del Programa registran una significativa mayor sobrevida (promedio 27 años) y una significativa reducción en la edad de diagnóstico de los pacientes ingresados desde 2006 en adelante. El acceso a la canasta GES (Garantías Explícitas en Salud), la implementación del tamizaje neonatal en algunas regiones del país, la organización y la constitución de equipos entrenados en FQ de diversas especialidades, ha contribuido a mejorar los resultados. Si bien las principales manifestaciones son del aparato respiratorio y digestivo, el carácter multisistémico de la FQ obliga a conocer los distintos aspectos involucrados en su manejo, a fin de optimizar los resultados del tratamiento y los recursos invertidos, tanto en el sector público como privado. Este documento es una revisión y actualización sobre los principales aspectos del diagnóstico, seguimiento y tratamiento de las manifestaciones respiratorias y no respiratorias de la FQ.

Cystic Fibrosis (CF) is the most frequent hereditary disease in whites, with a reserved prognosis. Since 2003, Chile began a comprehensive National Cystic Fibrosis Program, directed by the Respiratory Health Unit of the Ministry of Health. To date, the main results of the Program record a significantly longer survival (average 27 years) and a significant reduction in the age of diagnosis of patients admitted from 2006 onwards. Access to Chilean Explicit Health Guarantees, the implementation of neonatal screening in some regions of the country, the organization and setting up of CF-trained teams of various specialties, has contributed to improving results. Although the main manifestations are of the respiratory and digestive system, the multisystemic nature of CF makes it necessary to know the different aspects involved in its management, in order to optimize the results of the treatment and the resources invested, both in the public and private sectors. This document is a review and an update on the main aspects of the diagnosis, monitoring and treatment of the respiratory and non-respiratory manifestations of CF.

Preventing HIV under financial constraints: The 2011-12 reform of the Portuguese HIV/AIDS Programme.

The national HIV/AIDS Programme has been a core health programme in Portugal, and has led the country's response to the HIV epidemics since the 1980s. In 2011, the Portuguese Government reorganised central services and reformed all vertical programmes, including the HIV/AIDS Programme. This paper describes the main features of that reform and analyses selected outcomes, as well as how those financial constraints affected the response to HIV/AIDS. Despite some transitory cuts in spending, the National Programme for HIV/AIDS Infection was able to successfully expand testing and prevention interventions. Strategic partnerships with non-governmental and community-based organisations were crucial to continue delivering adequate HIV testing services and reaching most-at-risk groups. Scaling-up access to pre-exposure prophylaxis (PrEP), improving access and adherence to antiretroviral therapy, and continuously promoting access to HIV testing services and HIV self-testing are the main challenges that the National Programme for HIV/AIDS Infection will face in the upcoming years.

Uso de treprostinil sistémico en una paciente con hipertensión pulmonar grave, sin respuesta a la máxima terapia disponible / Use of treprostinil in a patient with a severe pulmonary arterial hypertension no responding to the maximal therapy available

En los pacientes con Hipertensión Arterial Pulmonar (HAP) de alto riesgo, en clase funcional (CF)IV, la terapia específica debe ser combinada y debe incluir una prostaciclina (PGI2) de uso sistémico en espera de trasplante bipulmonar (TBP). En el sistema público la única PGI2 disponible para asociar a Sildenafil y algún inhibidor de endotelina (Ambrisentan o Bosentan) es Iloprost nebulizado, que si bien es efectiva, no logra estabilizar los casos graves con severa disfunción del ventrículo derecho (VD). Se presenta el primer caso en el Instituto del Tórax, centro de referencia nacional de HAP, del uso de treprostinil en una paciente de 24 años con HAP grave e indicación de TBP. Treprostinil es un análogo sintético de PGI2 de uso subcutáneo en dosis desde 1 a 40 ng/kg/min. La paciente presentaba una situación de extrema gravedad: CF IV, distancia recorrida en el test de caminata de 6 min (DRTC 6 min) < 300 m,derrame pericárdico y severa disfunción del VD con TAPSE (índice de disfunción del VD) de 13 cm/s asociado a ProBNP >2.500 pg/ml. Luego de 6 meses de hospitalización en intermedio, terapia triple (Sildenafil, Ambrisentan e Iloprost nebulizado) asociado a O2,diuréticos y milrinona, logró ser dada de alta a las 3 semanas del inicio de treprostinil, regresando al trabajo a los 2 meses y estabilizando su condición en CF III, con DRTC 6 min > 440 m, mejoría de la función del VD(TAPSE 19). El ProBNP persistió elevado, 1.491 pg/ml, indicando que su enfermedad es grave y progresiva; sin embargo, ha logrado un nivel de estabilidad clínica que le permite una adecuada vida de relación familiar y laboral.

In high risk Pulmonary Arterial Hypertension (PAH) patients with functional class (FC) IV, specific therapy must be combined and must include systemic prostacyclin (PGI2), meanwhile they are enlisted for double lung transplant (DLT). In Chilean Public Health System, nebulized Iloprost is the only PGI2 available to combine with Sildenafil and either Ambrisentan or Bosentan as endothelin receptor antagonist. This association is not enough for severe cases with right ventricular (RV) dysfunction. The first case from the National Institute of Thorax as a referral center is presented now in a 24 years-old lady treated with treprostinil. She has severe PAH with DLT indication. Treprostinil is a PGI2 analog, for subcutaneous use in a dose from 1 to 40 ng/kg/min. She was extremely sick, with FC IV, she walked < 300 m at 6 min walking test (6 MWT), presented pericardial effusion and severe RV dysfunction, with TAPSE (echocardiography index for RV dysfunction)=13 cm/s, ProBNP > 2,500 pg/ml. Six months after being at intensive care unit with triple therapy (Sildenafil, ambrisentan and nebulized Iloprost) plus oxygen, diuretics and milrinone, she was finally discharged after receiving a 3 weeks treprostinil course. She came back to work two months later and her condition was more stable: FC III, she walked > 440 m at 6MWT, with a significant improvement in RV function with TAPSE = 19. Although ProBNP decreased to 1,491pg/ml, it was still high, pointing out the progressive nature of her disease. However, she met a better clinical condition which allows her to reach a much better quality of life from a personal, familial and social point of view.

Consenso chileno para la atención integral de niños y adultos con fibrosis quística / Chilean consensus for the integral care of children and adults with cystic fibrosis

Cystic Fibrosis (CF) is the most frequent hereditary disease in whites, with a reserved prognosis. Since 2003, Chile began a comprehensive National Cystic Fibrosis Program, directed by the Respiratory Health Unit of the Ministry of Health. To date, the main results of the Program record a significantly longer survival (average 27 years) and a significant reduction in the age of diagnosis of patients admitted from 2006 onwards. Access to Chilean Explicit Health Guarantees, the implementation of neonatal screening in some regions of the country, the organization and setting up of CF-trained teams of various specialties, has contributed to improving results. Although the main manifestations are of the respiratory and digestive system, the multisystemic nature of CF makes it necessary to know the different aspects involved in its management, in order to optimize the results of the treatment and the resources invested, both in the public and private sectors. This document is a review and an update on the main aspects of the diagnosis, monitoring and treatment of the respiratory and non-respiratory manifestations of CF.

La Fibrosis Quística (FQ) es la enfermedad hereditaria de pronóstico reservado más frecuente en raza blanca. Desde el año 2003, Chile inicia un Programa Nacional de Fibrosis Quística, de carácter integral, dirigido por la Unidad de Salud Respiratoria del Ministerio de Salud. Hasta la fecha, los principales resultados del Programa registran una significativa mayor sobrevida (promedio 27 años) y una significativa reducción en la edad de diagnóstico de los pacientes ingresados desde 2006 en adelante. El acceso a la canasta GES (Garantías Explícitas en Salud), la implementación del tamizaje neonatal en algunas regiones del país, la organización y la constitución de equipos entrenados en FQ de diversas especialidades, ha contribuido a mejorar los resultados. Si bien las principales manifestaciones son del aparato respiratorio y digestivo, el carácter multisistémico de la FQ obliga a conocer los distintos aspectos involucrados en su manejo, a fin de optimizar los resultados del tratamiento y los recursos invertidos, tanto en el sector público como privado. Este documento es una revisión y actualización sobre los principales aspectos del diagnóstico, seguimiento y tratamiento de las manifestaciones respiratorias y no respiratorias de la FQ.

Trasplante pulmonar en pacientes con fibrosis pulmonar idiopática / Lung transplant in patients with idiopathic pulmonary fibrosis

El trasplante pulmonar representa una opción terapéutica en pacientes con fibrosis pulmonar avanzada que presentan un curso progresivo a pesar de tratamiento médico, mejorando su sobrevida y calidad de vida. Es de vital importancia que el neumólogo conozca cuando referir a un paciente y estar familiarizado con los requisitos necesarios y contraindicaciones para enviar un paciente a un centro de trasplante. La derivación oportuna permite realizar un completo estudio, además de identificar las contraindicaciones y condiciones clínicas susceptibles de modificar y/o corregir antes de un trasplante.

Pulmonary transplantation represents a therapeutic option in patients with advanced pulmonary fibrosis who have a progressive course despite medical treatment, improving their survival and quality of life. It is vital that the pulmonologist knows when to refer a patient and be familiar with the requirements and contraindications. Timely referral grants the necessary time for a complete study, in addition to identifying contraindications and clinical conditions that could be modified and / or corrected before a transplant.

Trasplante pulmonar en pacientes con fibrosis pulmonar: experiencia del Instituto Nacional del Tórax / Lung transplantation in pulmonary fibrosis: an experience from National Institute of Thorax, Chile

Resumen La fibrosis pulmonar es una enfermedad progresiva y de mal pronóstico por lo que el trasplante pulmonar sigue siendo una opción para pacientes bien seleccionados. Objetivo: Evaluar resultados y sobrevida de pacientes con fibrosis pulmonar trasplantados a 8 años de inicio del programa de trasplante. Métodos: Estudio descriptivo de trasplantados de pulmón por fibrosis pulmonar desde agosto de 2010 a julio de 2018. Resultados: De un total de 76 trasplantes, un 68,4% han sido en pacientes con fibrosis pulmonar. La principal indicación fue fibrosis pulmonar idiopática (75%). El puntaje de priorización pulmonar (LAS) promedio fue de 53 y un 32% cumplía con criterios de urgencia. La edad promedio fue 55 años, y se usó técnica unipulmonar en un 98%. La principal complicación quirúrgica fue la estenosis bronquial (7,6%). De las complicaciones médicas precoces destacaron 26 episodios infecciosos y 6 rechazos celulares agudos. La principal complicación tardía fue la disfunción crónica de injerto. Los resultados funcionales promedio pre trasplante, a 1 y 3 años fueron: CVF de 49%, 71% y 70% del valor teórico. Un 40% ha fallecido en el período de seguimiento. La principal causa de mortalidad el primer año post trasplante fueron las infecciones. La sobrevida a 1, 3 y 5 años fue de 86,2%, 65,2% y 59,8% respectivamente. Conclusiones: En trasplante monopulmonar es una opción de tratamiento en estos pacientes, con una sobrevida de 59% a 5 años. Un tercio se trasplanta con criterios de urgencia, siendo las infecciones la principal complicación precoz y la disfunción crónica de injerto la complicación tardía más frecuente.

Pulmonary fibrosis is a progressive disease with a bad prognosis. This situation makes rise lung transplant as a therapeutic option among carefully selected patients. Objective: Evaluate the results and survival rates of patients with pulmonary fibrosis that were transplanted through an 8 years period of follow-up, from the beginning of our transplant program. Methods: Descriptive study of the transplanted patients diagnosed with pulmonary fibrosis from august 2010 to july 2018. Results: Out of 76 transplants, 68.4% were due to pulmonary fibrosis, among these, the main diagnosis was idiopathic pulmonary fibrosis (75%). The average lung allocation score (LAS) was 53 and 32% of them had urgency criteria. Patients ' age averaged 55 years-old and 98% of them underwent a single lung transplant. Early medical complications were seen in 26 patients with infectious episodes and 6 with acute rejection. The main late complication was chronic allograft dysfunction. The main surgical complication was bronchial stenosis (7.6%). In comparison to its base line reference values FVC means pre transplant and 1 and 3 years post-transplant were 49%, 70% and 71% respectively. A 40% of patients died during follow up period. Infections were the main cause of mortality during the first year. Survival rates at 1st 3rd and 5th year were 86,2%; 65.2% and 59.8% respectively. Conclusions: Single lung transplant is a therapeutic option for patients with interstitial lung disease with a 59% survival rate in 5 years, 1/3 fulfilled urgency criteria at the transplant time. The infections were the main early complication and chronic graft dysfunction was the main late complication.