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Seminars in Pediatric Neurology Dec 2023Sleep disordered breathing (SDB) is prevalent among children with neuromuscular disorders (NMD). The combination of respiratory muscle weakness, altered drive, and chest... (Review)
Review
Sleep disordered breathing (SDB) is prevalent among children with neuromuscular disorders (NMD). The combination of respiratory muscle weakness, altered drive, and chest wall distortion due to scoliosis make sleep a stressful state in this population. Symptomatology can range from absent to snoring, nocturnal awakenings, morning headaches, and excessive daytime sleepiness. Sequelae of untreated SDB includes cardiovascular effects, metabolic derangements, and neurocognitive concerns which can be compounded by those innate to the NMD. The clinician should have a low threshold for obtaining polysomnography and recognize the nuances of individual disorders due to disproportionately impacted muscle groups such as hypoventilation in ambulating patients from diaphragm weakness. Non-invasive or invasive ventilation are the mainstay of treatment. In this review we explore the diagnosis and treatment of SDB in children with various NMD.
Topics: Humans; Child; Sleep; Sleep Apnea Syndromes; Neuromuscular Diseases; Hypoventilation; Polysomnography
PubMed: 38065635
DOI: 10.1016/j.spen.2023.101092 -
The Journal of Allergy and Clinical... Nov 2023Human epigenetic variation is associated with both environmental exposures and allergic diseases and can potentially serve as a biomarker connecting climate change with... (Review)
Review
Human epigenetic variation is associated with both environmental exposures and allergic diseases and can potentially serve as a biomarker connecting climate change with allergy and airway diseases. In this narrative review, we summarize recent human epigenetic studies examining exposure to temperature, precipitation, extreme weather events, and malnutrition to discuss findings as they relate to allergic and airway diseases. Temperature has been the most widely studied exposure, with the studies implicating both short-term and long-term exposures with epigenetic alterations and epigenetic aging. Few studies have examined natural disasters or extreme weather events. The studies available have reported differential DNA methylation of multiple genes and pathways, some of which were previously associated with asthma or allergy. Few studies have integrated climate-related events, epigenetic biomarkers, and allergic disease together. Prospective longitudinal studies are needed along with the collection of target tissues beyond blood samples, such as nasal and skin cells. Finally, global collaboration to increase diverse representation of study participants, particularly those most affected by climate injustice, as well as strengthen replication, validation, and harmonization of measurements will be needed to elucidate the impacts of climate change on the human epigenome.
Topics: Humans; Climate Change; Prospective Studies; Hypersensitivity; Biomarkers; DNA Methylation; Respiration Disorders; Epigenesis, Genetic
PubMed: 37741554
DOI: 10.1016/j.jaci.2023.09.011 -
Medizinische Klinik, Intensivmedizin... Nov 2023Breathing 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... (Review)
Review
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.
Topics: Child; Humans; Respiratory Sounds; Respiration Disorders
PubMed: 37316572
DOI: 10.1007/s00063-023-01029-4 -
Respiratory Research Mar 2024Respiratory diseases are a major health burden, and educational inequalities may influence disease prevalence. We aim to evaluate the causal link between educational...
BACKGROUND
Respiratory diseases are a major health burden, and educational inequalities may influence disease prevalence. We aim to evaluate the causal link between educational attainment and respiratory disease, and to determine the mediating influence of several known modifiable risk factors.
METHODS
We conducted a two-step, two-sample Mendelian randomization (MR) analysis using summary statistics from genome-wide association studies (GWAS) and single nucleotide polymorphisms (SNPs) as instrumental variables for educational attainment and respiratory diseases. Additionally, we performed a multivariable MR analysis to estimate the direct causal effect of each exposure variable included in the analysis on the outcome, conditional on the other exposure variables included in the model. The mediating roles of body mass index (BMI), physical activity, and smoking were also assessed.
FINDINGS
MR analyses provide evidence of genetically predicted educational attainment on the risk of FEV1 (β = 0.10, 95% CI 0.06, 0.14), FVC (β = 0.12, 95% CI 0.07, 0.16), FEV1/FVC (β = - 0.005, 95% CI - 0.05, 0.04), lung cancer (OR = 0.54, 95% CI 0.45, 0.65) and asthma (OR = 0.86, 95% CI 0.78, 0.94). Multivariable MR dicated the effect of educational attainment on FEV1 (β = 0.10, 95% CI 0.04, 0.16), FVC (β = 0.07, 95% CI 0.01, 0.12), FEV1/FVC (β = 0.07, 95% CI 0.01, 0.01), lung cancer (OR = 0.55, 95% CI 0.42, 0.71) and asthma (OR = 0.88, 95% CI 0.78, 0.99) persisted after adjusting BMI and cigarettes per day. Of the 23 potential risk factors, BMI, smoking may partially mediate the relationship between education and lung disease.
CONCLUSION
High levels of educational attainment have a potential causal protective effect on respiratory diseases. Reducing smoking and adiposity may be a target for the prevention of respiratory diseases attributable to low educational attainment.
Topics: Humans; Genome-Wide Association Study; Mendelian Randomization Analysis; Respiration Disorders; Respiratory Tract Diseases; Educational Status; Lung Neoplasms; Asthma
PubMed: 38448970
DOI: 10.1186/s12931-024-02722-4 -
Medicina Intensiva Sep 2023Comprehensive ultrasound assessment has become an essential tool to facilitate the diagnosis and therapeutic management of critically ill patients with acute respiratory... (Review)
Review
Comprehensive ultrasound assessment has become an essential tool to facilitate the diagnosis and therapeutic management of critically ill patients with acute respiratory failure (ARF). There is evidence supporting the use of ultrasound for the diagnosis of pneumothorax, acute respiratory distress syndrome, cardiogenic pulmonary edema, pneumonia and acute pulmonary thromboembolism, and in patients with COVID-19. In addition, in recent years, the use of ultrasound to evaluate responses to treatment in critically ill patients with ARF has been developed, providing a noninvasive tool for titrating positive end-expiratory pressure, monitoring recruitment maneuvers and response to prone position, as well as for facilitating weaning from mechanical ventilation. The objective of this review is to summarize the basic concepts on the utility of ultrasound in the diagnosis and monitoring of critically ill patients with ARF.
Topics: Humans; Respiration, Artificial; Critical Illness; Ventilator Weaning; COVID-19; Respiratory Distress Syndrome; Respiratory Insufficiency
PubMed: 37419839
DOI: 10.1016/j.medine.2023.03.018 -
Clinics in Chest Medicine Sep 2023Over 80% of the morbidity and mortality related to acute and chronic respiratory diseases occur in low- and middle-income countries (LMICs), a reflection of vast... (Review)
Review
Over 80% of the morbidity and mortality related to acute and chronic respiratory diseases occur in low- and middle-income countries (LMICs), a reflection of vast disparities in care for these conditions. Over the next decade, the prevalence of respiratory diseases is expected to increase, as population growth in LMICs exceeds high-income countries (HICs). Pediatric morbidity and mortality from lower respiratory tract infections and asthma occur almost exclusively in LMICs, contributing to a greater loss of quality adjusted life years from these conditions when compared with HICs.
Topics: Humans; Child; Developing Countries; Health Equity; Asthma; Respiration Disorders; Prevalence
PubMed: 37517840
DOI: 10.1016/j.ccm.2023.03.015 -
Clinics in Perinatology Mar 2024Diverse genetic developmental lung diseases can present in the neonatal period with hypoxemic respiratory failure, often associated with with pulmonary hypertension.... (Review)
Review
Diverse genetic developmental lung diseases can present in the neonatal period with hypoxemic respiratory failure, often associated with with pulmonary hypertension. Intractable hypoxemia and lack of sustained response to medical management should increase the suspicion of a developmental lung disorder. Genetic diagnosis and lung biopsy are helpful in establishing the diagnosis. Early diagnosis can result in optimizing management and redirecting care if needed. This article reviews normal lung development, various developmental lung disorders that can result from genetic abnormalities at each stage of lung development, their clinical presentation, management, prognosis, and differential diagnoses.
Topics: Infant, Newborn; Humans; Hypertension, Pulmonary; Pulmonary Alveoli; Lung; Lung Diseases; Respiratory Insufficiency; Persistent Fetal Circulation Syndrome
PubMed: 38325943
DOI: 10.1016/j.clp.2023.12.001 -
Chest Dec 2023Mechanical insufflation-exsufflation (MIE) facilitates airway clearance to mitigate respiratory infection, decompensation, and ultimately the need for intubation and... (Review)
Review
Mechanical insufflation-exsufflation (MIE) facilitates airway clearance to mitigate respiratory infection, decompensation, and ultimately the need for intubation and placement of a tracheostomy tube. Despite widespread adoption as a respiratory support intervention for motor neuron disease, muscular dystrophy, spinal cord injury, and other diseases associated with ventilatory pump failure and ineffective cough peak flow, there is debate in the clinical community about how to optimize settings when MIE is implemented. This article will demonstrate the clinical utility of MIE graphics in titrating the initial MIE settings, guiding upper airway and lung protective strategies and providing insight to clinicians for ongoing clinical management.
Topics: Humans; Insufflation; Respiration, Artificial; Lung; Respiratory Insufficiency; Cough
PubMed: 37467887
DOI: 10.1016/j.chest.2023.07.007 -
British Journal of Hospital Medicine... Feb 2024Paediatric sleep-disordered breathing is a common condition which varies in severity from snoring to obstructive sleep apnoea. Paediatric sleep-disordered breathing is... (Review)
Review
Paediatric sleep-disordered breathing is a common condition which varies in severity from snoring to obstructive sleep apnoea. Paediatric sleep-disordered breathing is usually diagnosed clinically, with investigations such as polysomnography reserved for more complex cases. Management can involve watching and waiting, medical or adjunct treatments and adenotonsillectomy. National working groups have sought to standardise the pathway for surgery and improve the management of surgical and anaesthetic complications. Current guidelines use age, weight and comorbidities to stratify risk for these surgical cases. This article summarises these recommendations and outlines the important factors that indicate cases that may be more suitable for management in secondary and tertiary units. Appropriate case selection will reduce pressure on tertiary units while maintaining training opportunities in district general hospitals.
Topics: Child; Humans; Sleep Apnea Syndromes; Sleep Apnea, Obstructive; Adenoidectomy; Tonsillectomy
PubMed: 38416524
DOI: 10.12968/hmed.2023.0275 -
Lung Feb 2024In recent years, there has been a substantial increase in the development of antitussive therapies and the first new therapy, gefapixant has been licenced in Europe.... (Review)
Review
In recent years, there has been a substantial increase in the development of antitussive therapies and the first new therapy, gefapixant has been licenced in Europe. This review describes current unlicenced treatments for chronic cough and details treatments currently in development for refractory chronic cough and cough in idiopathic pulmonary fibrosis, as well as compounds previously explored.
Topics: Humans; Chronic Cough; Chronic Disease; Cough; Antitussive Agents; Europe
PubMed: 38127133
DOI: 10.1007/s00408-023-00666-y