Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia

Abstract Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. Methods This was a multicenter cross-sectional study of patients with a high suspicion of PCD according to European Respiratory Society criteria. We designed a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. Results We includ…

Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria

Resumen Introduccion La discinesia ciliar primaria (DCP) es una enfermedad caracterizada por una alteracion en la estructura ciliar que impide el correcto aclaramiento de las secreciones respiratorias. Su diagnostico es complejo y se basa en una combinacion de tecnicas. El objetivo de este estudio fue disenar un panel de genes incluyendo todos los genes causantes conocidos y comprobar su utilidad diagnostica en una cohorte de pacientes espanoles. Metodos Estudio transversal multicentrico de pacientes con sospecha elevada de DCP, aplicando los criterios de la European Respiratory Society. Diseno de un panel de genes para secuenciacion masiva con la tecnologia de captura SeqCap EZ technology,…

Neumonía adquirida en la comunidad: tratamiento de los casos complicados y en situaciones especiales. Documento de consenso de la Sociedad Española de Infectología Pediátrica (SEIP) y Sociedad Española de Neumología Pediátrica (SENP)

Resumen: Desde hace más de una década, los casos complicados de neumonía adquirida en la comunidad, fundamentalmente con empiema pleural o formas necrosantes, comenzaron a ser más frecuentes en niños, según la amplia documentación procedente de numerosos países. El abordaje terapéutico óptimo de estos casos, tanto desde el punto de vista médico (antibióticos, fibrinolíticos) como técnico-quirúrgico, (drenaje pleural, videotoracoscopia) continúa siendo controvertido. En este documento, la Sociedad Española de Infectología Pediátrica y la Sociedad Española de Neumología Pediátrica revisan la evidencia científica y proponen unas pautas consensuadas de tratamiento de estos casos, fundamentalmen…

Community acquired pneumonia in children: Outpatient treatment and prevention

There have been significant changes in community acquired pneumonia (CAP) in children in the last decade. These changes are related to epidemiology and clinical presentation. Resistance to antibiotics is also a changing issue. These all have to be considered when treating Community acquired pneumonia (CAP). In this document, two of the main Spanish pediatric societies involved in the treatment of CAP in children, propose a consensus concerning therapeutic approach. These societies are the Spanish Society of Paediatric Infectious Diseases and the Spanish Society of Paediatric Chest Diseases. The Advisory Committee on Vaccines of the Spanish Association of Paediatrics (CAV-AEP) has also been …

New insights in primary ciliary dyskinesia

Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disease with an estimated prevalence of 1:20.000 births. It is characterized by abnormal motility of cilia, leading to impaired mucociliary clearance, and subsequent infection and chronic inflammation of the airways. PCD also affects spermatozoa and cilia in the Fallopian tubes, contributing to fertility issues; dyskinesia of embryonic nodal cilia causes a random distribution of the organs. Areas covered: An overview of the history, genetics, clinical manifestations in children and adults, diagnostic tests, treatments, and prognosis are reviewed. We also discuss current research and future prospects of PCD. Expert opinion: As …

Community acquired pneumonia in children: Treatment of complicated cases and risk patients. Consensus statement by the Spanish Society of Paediatric Infectious Diseases (SEIP) and the Spanish Society of Paediatric Chest Diseases (SENP)

The incidence of community-acquired pneumonia complications has increased during the last decade. According to the records from several countries, empyema and necrotising pneumonia became more frequent during the last few years. The optimal therapeutic approach for such conditions is still controversial. Both pharmacological management (antimicrobials and fibrinolysis), and surgical management (pleural drainage and video-assisted thoracoscopic surgery), are the subject of continuous assessment. In this paper, the Spanish Society of Paediatric Infectious Diseases and the Spanish Society of Paediatric Chest Diseases have reviewed the available evidence. Consensus treatment guidelines are prop…

Respuesta a «Pautas cortas de antibioterapia en neumonías adquiridas en la comunidad en niños»

Neumonía adquirida en la comunidad: tratamiento ambulatorio y prevención

Resumen: La neumonía adquirida en la comunidad (NAC) en la edad pediátrica ha sufrido, en la última década, una serie de cambios epidemiológicos, clínicos, etiológicos y de resistencias a antibióticos, que obligan a replantear su abordaje terapéutico. En este documento, dos de las principales sociedades de especialidades pediátricas involucradas en el diagnóstico y tratamiento de esta entidad, como son la Sociedad Española de Infectología Pediátrica y la Sociedad Española de Neumología Pediátrica, así como el Comité Asesor de Vacunas de la AEP, proponen unas pautas consensuadas de tratamiento y prevención, con el fin de proporcionar a todos los pediatras una guía actualizada. En esta primer…

International BEAT-PCD Consensus Statement for Infection Prevention and Control for Primary Ciliary Dyskinesia in collaboration with ERN-LUNG PCD Core NETWORK and patient representatives

Introduction In primary ciliary dyskinesia (PCD) impaired mucociliary clearance leads to recurrent airway infections and progressive lung destruction, and concern over chronic airway infection and patient-to-patient transmission is considerable. So far, there has been no defined consensus on how to control infection across centres caring for patients with PCD. Within the BEAT-PCD network, COST Action and ERS CRC together with the ERN-Lung PCD core a first initiative has now been taken towards creating such a consensus statement. Methods A multidisciplinary international PCD expert panel was set up to create a consensus statement for infection prevention and control (IP&C) for PCD, covering …