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OBJECTIVES: To develop a statistical approach that provides a quantitative index measuring the magnitude of the irregularity of the breathing response to exercise for the diagnosis of dysfunctional breathing. DESIGN: Cross-sectional, retrospective, real-world study. SETTING: Single-centre study. PARTICIPANTS: A population of 209 patients investigated with cardiopulmonary exercise testing in our institution for unexplained or disproportionate exertional dyspnoea between January and July 2022. PRIMARY AND SECONDARY OUTCOME MEASURES: A novel statistical approach providing a quantitative index-proportional tidal volume variation (PTVV)-was developed to measure the magnitude of the irregularity of the breathing response to exercise. RESULTS: PTVV provided a reliable statistical readout for the objective assessment of DB with a prediction accuracy of 78% (95% CI: 72 to 83%). The prevalence of DB in the investigated population was high with more than half of the patients affected by moderate-to-severe DB. CONCLUSIONS: PTVV can easily be implemented in the clinical routine. Our study suggests a possible further simplification for the diagnosis of DB with two objective criteria including PTVV and one single criterion for hyperventilation.
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Volumen de Ventilación Pulmonar , Humanos , Estudios Retrospectivos , Estudios Transversales , Masculino , Femenino , Persona de Mediana Edad , Prueba de Esfuerzo/métodos , Adulto , Disnea/diagnóstico , Disnea/fisiopatología , Anciano , Trastornos Respiratorios/diagnóstico , Trastornos Respiratorios/fisiopatologíaRESUMEN
OBJECTIVE: This study aimed to systematically review the psychometric properties of outcome measures that assess dysfunctional breathing (DB) in adults. METHODS: Studies on developing and evaluating measurement properties to assess DB were included. The study investigated the empirical research published between 1990 and February 2022, with an updated search in May 2023 in the Cochrane Library database of systematic reviews and the Cochrane Central Register of Controlled Trials, the Ovid Medline (full), the Ovid Excerta Medica Database, the Ovid allied and complementary medicines database, the Ebscohost Cumulative Index to Nursing and Allied Health Literature and the Physiotherapy Evidence Database. The included studies' methodological quality was assessed using the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) risk of bias checklist. Data analysis and synthesis followed the COSMIN methodology for reviews of outcome measurement instruments. RESULTS: Sixteen studies met the inclusion criteria, and 10 outcome measures were identified. The psychometric properties of these outcome measures were evaluated using COSMIN. The Nijmegen Questionnaire (NQ) is the only outcome measure with 'sufficient' ratings for content validity, internal consistency, reliability and construct validity. All other outcome measures did not report characteristics of content validity in the patients' group. DISCUSSION: The NQ showed high-quality evidence for validity and reliability in assessing DB. Our review suggests that using NQ to evaluate DB in people with bronchial asthma and hyperventilation syndrome is helpful. Further evaluation of the psychometric properties is needed for the remaining outcome measures before considering them for clinical use. PROSPERO REGISTRATION NUMBER: CRD42021274960.
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Evaluación de Resultado en la Atención de Salud , Psicometría , Humanos , Reproducibilidad de los Resultados , Trastornos Respiratorios/diagnóstico , Encuestas y CuestionariosRESUMEN
Breathing disorders in children are one of the most common challenges for both parents and physicians. The first step should always consist of the initial clinical assessment concerning the potentially critically ill patient. Using the pediatric assessment triangle (PAT), the rapid evaluation of airway and breathing is crucial. Although the etiology of pediatric breathing disorders is manifold, we would like to focus on common diagnoses. Based on the three leading symptoms stridor, wheeze, and tachypnea, the most important diseases of pediatric patients are presented and initial treatment steps are discussed. We target crucial, life-saving, basic medical procedures that should be mastered and performed in and also outside of specialized centers or pediatric units.
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Trastornos Respiratorios , Ruidos Respiratorios , Niño , Humanos , Ruidos Respiratorios/etiología , Ruidos Respiratorios/diagnóstico , Trastornos Respiratorios/diagnósticoRESUMEN
BACKGROUND: Validating the information recorded in administrative databases is essential. However, no study has comprehensively validated the accuracy of Japanese Diagnosis Procedure Combination (DPC) data on various respiratory diseases. Therefore, this study aimed to evaluate the validity of diagnoses of respiratory diseases in the DPC database. METHODS: We conducted chart reviews of 400 patients hospitalized in the departments of respiratory medicine in two acute-care hospitals in Tokyo, between April 1, 2019 and March 31, 2021, and used them as reference standards. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of DPC data on 25 respiratory diseases were determined. RESULTS: Sensitivity ranged from 22.2% (aspiration pneumonia) to 100% (chronic eosinophilic pneumonia and malignant pleural mesothelioma) and was <50% for eight diseases, while specificity was >90% for all diseases. PPV ranged from 40.0% (aspiration pneumonia) to 100% (coronavirus disease 2019, bronchiectasis, chronic eosinophilic pneumonia, pulmonary hypertension, squamous cell carcinoma, small cell carcinoma, lung cancer of other histological types, and malignant pleural mesothelioma) and was >80% for 16 diseases. Except for chronic obstructive pulmonary disease (82.9%) and interstitial pneumonia (other than idiopathic pulmonary fibrosis) (85.4%), NPV was >90% for all diseases. These validity indices were similar in both hospitals. CONCLUSIONS: The validity of diagnoses of respiratory diseases in the DPC database was high in general, thereby providing an important basis for future studies.
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Bases de Datos Factuales , Enfermedades Respiratorias , Humanos , COVID-19/diagnóstico , COVID-19/epidemiología , Bases de Datos Factuales/normas , Bases de Datos Factuales/estadística & datos numéricos , Pueblos del Este de Asia/estadística & datos numéricos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiología , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/epidemiología , Neumonía por Aspiración/diagnóstico , Neumonía por Aspiración/epidemiología , Eosinofilia Pulmonar/diagnóstico , Eosinofilia Pulmonar/epidemiología , Trastornos Respiratorios/diagnóstico , Trastornos Respiratorios/epidemiología , Japón/epidemiología , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Enfermedades Respiratorias/diagnóstico , Enfermedades Respiratorias/epidemiologíaRESUMEN
OBJECTIVE: The COVID-19 pandemic has had a great effect on the management of chronic diseases, by limiting the access to primary care and to diagnostic procedures, causing a decline in the incidence of most diseases. Our aim was to analyze the impact of the pandemic on primary care new diagnoses of respiratory diseases. METHODS: Observational retrospective study performed to describe the effect of COVID-19 pandemic on the incidence of respiratory diseases according to primary care codification. Incidence rate ratio between pre-pandemic and pandemic period was calculated. RESULTS: We found a decrease in the incidence of respiratory conditions (IRR 0.65) during the pandemic period. When we compared the different groups of diseases according to ICD-10, we found a significant decrease in the number of new cases during the pandemic period, except in the case of pulmonary tuberculosis, abscesses or necrosis of the lungs and other respiratory complications (J95). Instead, we found increases in flu and pneumonia (IRR 2.17) and respiratory interstitial diseases (IRR 1.41). CONCLUSION: There has been a decrease in new diagnosis of most respiratory diseases during the COVID-19 pandemic.
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COVID-19 , Trastornos Respiratorios , Enfermedades Respiratorias , Humanos , COVID-19/epidemiología , Pandemias , España/epidemiología , SARS-CoV-2 , Estudios Retrospectivos , Enfermedades Respiratorias/diagnóstico , Enfermedades Respiratorias/epidemiología , Trastornos Respiratorios/diagnóstico , Trastornos Respiratorios/epidemiología , Prueba de COVID-19RESUMEN
AIM: To perform a simultaneous concept analysis of the concepts associated to nursing diagnoses ineffective airway clearance, ineffective breathing pattern, and impaired gas exchange. BACKGROUND: Concepts about respiratory manifestations need to be well defined, especially in the current pandemic scenario. For that, the simultaneous concept analysis can help in the clarity and differentiation of similar concepts. METHODS: A concept analysis using the Walker and Avant approach and an integrative review. Data were collected by a group of nurses through a literature review. The group identified 10 articles that met the inclusion criteria and complemented the understanding of the concepts analysed through the sequential description of respiratory physiology in technical books. RESULTS: The final list included 28, 22, and 21 clinical indicators for ineffective breathing pattern, impaired gas exchange, and ineffective airway clearance, respectively. The former, the final proposal incorporated 13 indicators that were pointed out by the group and 15 defining characteristics of NANDA-International. For Impaired gas exchange, the indicator "decreased oxygen saturation" was included; among the defining characteristics of NANDA-International, "abnormal arterial blood gases" was excluded, and "abnormal breathing pattern" was subdivided into "alterations in respiratory depth," "bradypnea," "tachypnea," and "change in respiratory rhythm." The latter, only the "wide-eyed" was removed from the final list of clinical indicators, which subsequently consisted of nine indicators suggested by the group and 12 defining characteristics. CONCLUSION: This concept analysis may aid in the process of differentiation for ineffective airway clearance, ineffective breathing pattern, and impaired gas exchange, and aid in safer diagnostic inference. This concept analysis can support the understanding of respiratory nursing diagnoses, helping nurses to identify and differentiate them more safely.
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Diagnóstico de Enfermería , Trastornos Respiratorios , Humanos , Respiración , Trastornos Respiratorios/diagnósticoRESUMEN
The clinical manifestations of bronchial asthma are complex and variable, which can easily be confused with other diseases. So misdiagnosis and missed diagnosis of asthma are common. In the differential diagnosis of asthma, organic diseases such as left ventricular dysfunction, chronic obstructive pulmonary disease, and upper airway obstruction are most often considered, but the understanding of functional disease is insufficient. In fact, GINA guidelines suggested that the differential diagnosis in adult patients with suspected asthma needed to prioritize functional diseases such as dysfunctional breathing (DB)/hyperventilation syndrome (HVS) and vocal cord dysfunction (VCD), rather than organic disease. Here we review the concepts of DB and VCD and their differentiation from asthma.
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Asma , Trastornos Respiratorios , Disfunción de los Pliegues Vocales , Adulto , Asma/diagnóstico , Diagnóstico Diferencial , Errores Diagnósticos , Humanos , Trastornos Respiratorios/diagnóstico , Disfunción de los Pliegues Vocales/diagnósticoRESUMEN
Allergy and respiratory disorders are common in young athletic individuals. In the context of elite sport, it is essential to secure an accurate diagnosis in order to optimize health and performance. It is also important, however, to consider the potential impact or consequences of these disorders, in recreationally active individuals engaging in structured exercise and/or physical activity to maintain health and well-being across the lifespan. This EAACI Task Force was therefore established, to develop an up-to-date, research-informed position paper, detailing the optimal approach to the diagnosis and management of common exercise-related allergic and respiratory conditions. The recommendations are informed by a multidisciplinary panel of experts including allergists, pulmonologists, physiologists and sports physicians. The report is structured as a concise, practically focussed document, incorporating diagnostic and treatment algorithms, to provide a source of reference to aid clinical decision-making. Throughout, we signpost relevant learning resources to consolidate knowledge and understanding and conclude by highlighting future research priorities and unmet needs.
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Hipersensibilidad , Trastornos Respiratorios , Enfermedades Respiratorias , Deportes , Comités Consultivos , Ejercicio Físico , Humanos , Hipersensibilidad/diagnóstico , Hipersensibilidad/etiología , Hipersensibilidad/terapia , Trastornos Respiratorios/diagnóstico , Trastornos Respiratorios/etiología , Trastornos Respiratorios/terapia , Enfermedades Respiratorias/diagnóstico , Enfermedades Respiratorias/etiología , Enfermedades Respiratorias/terapiaRESUMEN
In recent years, personalized or precision medicine has made effective inroads into the management of diseases, including respiratory diseases. The route to implementing this approach must invariably start with the identification and validation of biological biomarkers that are closely related to the diagnosis, treatment, and prognosis of respiratory patients. In this respect, biological biomarkers of greater or lesser reliability have been identified for most respiratory diseases and disease classes, and a large number of studies are being conducted in the search for new indicators. The aim of this review is to update the reader and to analyze the existing scientific literature on the existence and diagnostic, therapeutic, and prognostic validity of the most important biological biomarkers in the main respiratory diseases, and to identify future challenges in this area.
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Enfermedad Pulmonar Obstructiva Crónica , Trastornos Respiratorios , Biomarcadores , Humanos , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Enfermedad Pulmonar Obstructiva Crónica/terapia , Reproducibilidad de los Resultados , Trastornos Respiratorios/diagnósticoRESUMEN
BACKGROUND: The lack of simple and affordable spirometry has led to the missed and delayed diagnoses of chronic respiratory diseases in communities. The PUS201P is a portable spirometry developed to solve this problem. OBJECTIVE: We aimed to verify the consistency of the PUS201P spirometer with conventional Jaeger spirometer. METHODS: In this cross-sectional study, we randomly recruited 202 subjects aged > 40 years. Testing with the portable spirometry and conventional spirometry were performed on all participants. We compared forced expiratory volume in one second (FEV1), forced vital capacity (FVC), FEV1/FVC measured by the PUS201P device with the conventional spirometer. Pearson correlation coefficient and Interclass Correlation Coefficient (ICC) were assessed to confirm the consistency of the measures from two instruments. Bland-Altman graph was created to assess the agreement of the measures from two devices. RESULTS: 202 participants were included in this study. The ICC on FEV1, FVC, FEV1/FVC measured by the portable spirometer and the conventional spirometer were 0.95 (95% confidence interval [CI]: 0.94-0.96), 0.92 (95% CI: 0.90-0.94], 0.93 (95% CI: 0.91-0.95), respectively. The Bland-Altman plots showed that the mean difference between the measures from two spirometers are always located in the 95% limits of agreement. CONCLUSIONS: Our results support that the measures from the portable spirometer and the conventional spirometer have a good agreement and reproducibility. And the portable spirometer is a reliable tool to screen and diagnose chronic airway diseases in the primary care settings.
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Trastornos Respiratorios/diagnóstico , Espirometría/instrumentación , Anciano , China , Enfermedad Crónica , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los ResultadosRESUMEN
OBJECTIVE: to develop and evaluate a middle-range theory for the Nursing Diagnosis of Ineffective Breathing Pattern in children with congenital heart disease. METHOD: a methodological study carried out in two stages: 1) development of a middle- range theory for Ineffective Breathing Pattern in children with congenital heart diseases from the analysis of the NANDA-International taxonomy, Callista Roy's Adaptation Model and a literature review; and 2) assessment of the middle-range theory developed using expert panel evaluation. RESULTS: after three panel evaluations, the final version of the middle-range theory resulted in four metaparadigms, two key concepts, two pictorial diagrams, two propositions and a description of the interrelationships between the key concepts of Ineffective Breathing Pattern in children with congenital heart diseases and evidence for the Nursing practice. CONCLUSION: the middle-range theory developed and evaluated by experts identified stimuli and behaviors that can assist nurses in identifying the reasons why Ineffective Breathing Pattern is diagnosed and how it manifests itself in children with congenital heart disease, increasing understanding of the relationships between the causes and their temporality.
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Cardiopatías Congénitas , Trastornos Respiratorios , Humanos , Niño , Trastornos Respiratorios/diagnóstico , Cardiopatías Congénitas/complicaciones , Diagnóstico de Enfermería , RespiraciónRESUMEN
BACKGROUND: About one-tenth of patients with difficult-to-treat chronic rhinosinusitis with nasal polyps (CRSwNP) have comorbid non-steroidal anti-inflammatory drug-exacerbated respiratory disease (NSAID-ERD). Dupilumab, a fully human monoclonal antibody that blocks the shared interleukin (IL)-4/IL-13 receptor component, is an approved add-on treatment in severe CRSwNP. This post hoc analysis evaluated dupilumab efficacy and safety in patients with CRSwNP with/without NSAID-ERD. METHODS: Data were pooled from the phase 3 SINUS-24 and SINUS-52 studies in adults with uncontrolled severe CRSwNP who received dupilumab 300 mg or placebo every 2 weeks. CRSwNP, nasal airflow, lung function, and asthma control outcomes at Week 24 were evaluated, and treatment-subgroup interactions were assessed for patients with and without NSAID-ERD. RESULTS: Of 724 patients, 204 (28.2%) had a diagnosis of NSAID-ERD. At Week 24, least squares mean treatment differences demonstrated significant improvements in nasal polyp score, nasal congestion (NC), Lund-Mackay computed tomography, 22-item Sinonasal Outcome Test (SNOT-22), Total Symptom Score (TSS), rhinosinusitis severity visual analog scale, peak nasal inspiratory flow (PNIF), six-item Asthma Control Questionnaire score, and improvement in smell with dupilumab versus placebo (all p < .0001) in patients with NSAID-ERD. Treatment comparisons demonstrated significantly greater improvements with dupilumab in patients with versus without NSAID-ERD for NC (p = .0044), SNOT-22 (p = .0313), TSS (p = .0425), and PNIF (p = .0123). CONCLUSIONS: In patients with uncontrolled severe CRSwNP, dupilumab significantly improved objective measures and patient-reported symptoms to a greater extent in the presence of comorbid NSAID-ERD than without. Dupilumab was well tolerated in patients with/without NSAID-ERD.
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Anticuerpos Monoclonales Humanizados , Pólipos Nasales , Trastornos Respiratorios , Sinusitis , Adulto , Antiinflamatorios no Esteroideos/efectos adversos , Anticuerpos Monoclonales Humanizados/efectos adversos , Asma/tratamiento farmacológico , Enfermedad Crónica , Ensayos Clínicos Fase III como Asunto , Humanos , Pólipos Nasales/complicaciones , Ensayos Clínicos Controlados Aleatorios como Asunto , Trastornos Respiratorios/complicaciones , Trastornos Respiratorios/diagnóstico , Sinusitis/tratamiento farmacológico , Resultado del TratamientoRESUMEN
Chinese medicine for intestinal regulation is an emerging method for pediatric respiratory disorders, which has better clinical value when combined with NIV (Non-invasive ventilation). This study aims to observe the clinical efficacy of NIV plus Chinese medicine for intestinal regulation in Chinese children with respiratory disorders. Thirty-nine patients admitted to Huaihua First People's Hospital, between March 2016 and July 2018 were enrolled, including 14 children with chronic hypercapnic respiratory failure, 19 with non-surgical OSAS, 5 with OB and 1 with central hypoventilation syndrome. After NIV, the blood gas carbon dioxide retention and labored breathing were improved, respiratory rate and heart rate were decreased and the feeding condition of some children improved. After NIV treatment, clinical symptoms of children with OSAS were significantly ameliorated. In polysomnography monitoring, the AHI, OAI and SpO2 were significantly enhanced following NIV. In addition, patients with OB and central hypoventilation had different degrees of improvement of their symptoms. NIV plus Chinese medicine for intestinal regulation alleviate the clinical symptoms and enhances the quality of life of children with chronic hypercapnic respiratory failure. Some children could be transferred out of the intensive care unit and into home mechanical ventilation.
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Medicamentos Herbarios Chinos/uso terapéutico , Intestinos/efectos de los fármacos , Pulmón/fisiopatología , Ventilación no Invasiva , Trastornos Respiratorios/terapia , Respiración , Factores de Edad , Niño , Preescolar , China , Terapia Combinada , Medicamentos Herbarios Chinos/efectos adversos , Femenino , Humanos , Lactante , Intestinos/fisiopatología , Masculino , Ventilación no Invasiva/efectos adversos , Calidad de Vida , Recuperación de la Función , Trastornos Respiratorios/diagnóstico , Trastornos Respiratorios/fisiopatología , Estudios Retrospectivos , Factores de Tiempo , Resultado del TratamientoRESUMEN
This study determined the association between respiratory symptoms and death from respiratory causes over a period of 45 years. In four cohorts of random samples of Norwegian populations with 103,881 participants, 43,731 persons had died per 31 December 2016. In total, 5,949 (14%) had died from respiratory diseases; 2,442 (41%) from lung cancer, 1,717 (29%) chronic obstructive pulmonary disease (COPD), 1,348 (23%) pneumonia, 119 (2%) asthma, 147 (2%) interstitial lung disease and 176 (3%) other pulmonary diseases. Compared with persons without respiratory symptoms the multivariable adjusted hazard ratio (HR) for lung cancer deaths increased with score of breathlessness on effort and cough and phlegm, being 2.6 (95% CI 2.1-3.2) for breathlessness score 3 and 2.1 (95% CI 1.7-2.5) for cough and phlegm score 5. The HR of COPD death was 6.4 (95% CI 5.4-7.7) for breathlessness score 3 and 3.0 (2.4-3.6) for cough and phlegm score 5. Attacks of breathlessness and wheeze score 2 had a HR of 1.6 (1.4-1.9) for COPD death. The risk of pneumonia deaths increased also with higher breathlessness on effort score, but not with higher cough and phlegm score, except for score 2 with HR 1.5 (1.2-1.8). In this study with >2.4 million person-years at risk, a positive association was observed between scores of respiratory symptoms and deaths due to COPD and lung cancer. Respiratory symptoms are thus important risk factors, which should be followed thoroughly by health care practitioners for the benefit of public health.
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Enfermedades Pulmonares/diagnóstico , Trastornos Respiratorios/diagnóstico , Adolescente , Adulto , Asma/diagnóstico , Asma/epidemiología , Estudios de Cohortes , Tos/diagnóstico , Tos/epidemiología , Disnea/epidemiología , Femenino , Volumen Espiratorio Forzado , Humanos , Enfermedades Pulmonares/epidemiología , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiología , Masculino , Persona de Mediana Edad , Noruega/epidemiología , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Enfermedad Pulmonar Obstructiva Crónica/epidemiología , Trastornos Respiratorios/epidemiología , Ruidos Respiratorios , Factores de Riesgo , Adulto JovenRESUMEN
The existing coverage criteria for home noninvasive ventilation (NIV) do not recognize the diversity of hypoventilation syndromes and advances in technologies. This document summarizes the work of the hypoventilation syndromes Technical Expert Panel working group. The most pressing current coverage barriers identified were: (1) overreliance on arterial blood gases (particularly during sleep); (2) need to perform testing on prescribed oxygen; (3) requiring a sleep study to rule out OSA as the cause of sustained hypoxemia; (4) need for spirometry; (5) need to show bilevel positive airway pressure (BPAP) without a backup rate failure to qualify for BPAP spontaneous/timed; and (6) qualifying hospitalized patients for home NIV therapy at the time of discharge. Critical evidence support for changes to current policies includes randomized controlled trial evidence and clinical practice guidelines. To decrease morbidity and mortality by achieving timely access to NIV for patients with hypoventilation, particularly those with obesity hypoventilation syndrome, we make the following key suggestions: (1) given the significant technological advances, we advise acceptance of surrogate noninvasive end-tidal and transcutaneous Pco2 and venous blood gases in lieu of arterial blood gases; (2) not requiring Pco2 measures while on prescribed oxygen; (3) not requiring a sleep study to avoid delays in care in patients being discharged from the hospital; (4) remove spirometry as a requirement; and (5) not requiring BPAP without a backup rate failure to approve BPAP spontaneous/timed. The overarching goal of the Technical Expert Panel is to establish pathways that improve clinicians' management capability to provide Medicare beneficiaries access to appropriate home NIV therapy. Adoption of these proposed suggestions would result in the right device, for the right type of patient with hypoventilation syndromes, at the right time.
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Accesibilidad a los Servicios de Salud , Servicios de Atención de Salud a Domicilio/organización & administración , Hipoventilación , Medicare , Ventilación no Invasiva , Trastornos Respiratorios , Presión de las Vías Aéreas Positiva Contínua/métodos , Accesibilidad a los Servicios de Salud/organización & administración , Accesibilidad a los Servicios de Salud/normas , Humanos , Hipoventilación/etiología , Hipoventilación/terapia , Medicare/organización & administración , Medicare/normas , Ventilación no Invasiva/instrumentación , Ventilación no Invasiva/métodos , Ventilación no Invasiva/normas , Oxígeno/análisis , Oxígeno/sangre , Alta del Paciente/normas , Polisomnografía/métodos , Neumología/tendencias , Trastornos Respiratorios/clasificación , Trastornos Respiratorios/complicaciones , Trastornos Respiratorios/diagnóstico , Espirometría/métodos , Estados UnidosRESUMEN
Epilepsy is a debilitating disorder of uncontrollable recurrent seizures that occurs as a result of imbalances in the brain excitatory and inhibitory neuronal signals, that could stem from a range of functional and structural neuronal impairments. Globally, nearly 70 million people are negatively impacted by epilepsy and its comorbidities. One such comorbidity is the effect epilepsy has on the autonomic nervous system (ANS), which plays a role in the control of blood circulation, respiration and gastrointestinal function. These epilepsy-induced impairments in the circulatory and respiratory systems may contribute toward sudden unexpected death in epilepsy (SUDEP). Although, various hypotheses have been proposed regarding the role of epilepsy on ANS, the linking pathological mechanism still remains unclear. Channelopathies and seizure-induced damages in ANS-control brain structures were some of the causal/pathological candidates of cardiorespiratory comorbidities in epilepsy patients, especially in those who were drug resistant. However, emerging preclinical research suggest that neurotransmitter/receptor dysfunction and synaptic changes in the ANS may also contribute to the epilepsy-related autonomic disorders. Thus, pathological mechanisms of cardiorespiratory dysfunction should be elucidated by considering the modifications in anatomy and physiology of the autonomic system caused by seizures. In this regard, we present a comprehensive review of the current literature, both clinical and preclinical animal studies, on the cardiorespiratory findings in epilepsy and elucidate the possible pathological mechanisms of these findings, in hopes to prevent SUDEP especially in patients who are drug resistant.
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Sistema Nervioso Autónomo/fisiopatología , Encéfalo/fisiopatología , Epilepsia/fisiopatología , Frecuencia Cardíaca/fisiología , Mecánica Respiratoria/fisiología , Muerte Súbita e Inesperada en la Epilepsia , Animales , Sistema Nervioso Autónomo/fisiología , Capacidad Cardiovascular/fisiología , Epilepsia/diagnóstico , Epilepsia/terapia , Cardiopatías/diagnóstico , Cardiopatías/fisiopatología , Cardiopatías/terapia , Humanos , Trastornos Respiratorios/diagnóstico , Trastornos Respiratorios/fisiopatología , Trastornos Respiratorios/terapia , Convulsiones/diagnóstico , Convulsiones/fisiopatología , Convulsiones/terapia , Muerte Súbita e Inesperada en la Epilepsia/prevención & control , Resultado del TratamientoRESUMEN
OBJECTIVES/HYPOTHESIS: Robin sequence (RS) consists of associated micrognathia, glossoptosis, and respiratory dysfunction, with or without cleft palate. Studies on how different patient characteristics impact the severity of respiratory dysfunction are scarce and contradictory; this study investigates how different features affect respiratory obstruction severity at diagnosis of RS in controlled analysis. STUDY DESIGN: Retrospective cohort study that enrolled 71 RS patients under 90 days old who received care in our institution from 2009 to 2020. METHODS: The primary outcome, respiratory dysfunction, was categorized into four severity groups and analyzed using a multinomial logistic regression model that considered age, sex, mandible length, cleft palate, syndromic diagnosis, other airway anomalies, and degree of glossoptosis. RESULTS: Mandible length, syndromic diagnosis, and Yellon grade 3 glossoptosis were related to poorer respiratory outcomes (need for respiratory support). In univariate analysis, for each additional 1 mm of mandible length at diagnosis, a mean reduction of 28% in the risk of needing respiratory support was observed (OR = 0.72; 0.58-0.89); syndromic diagnosis and grade 3 glossoptosis also raised the risk (OR = 6.50; 1.59-26.51 and OR = 12.75; 1.03-157.14, respectively). In multivariate analysis, only mandible length significantly maintained its effects (OR = 0.73; 0.56-0.96), a 27% reduction. CONCLUSIONS: Mandible length was an independent predictor for more severe respiratory dysfunction in RS patients, with larger mandibles showing protective effects. Syndromic diagnosis and Yellon grade 3 glossoptosis are also likely to be associated with poorer respiratory outcomes, although this was not demonstrated in multivariate analysis. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:2811-2816, 2021.