Pediatric Pulmonology最新文献

Background: Newborn screening (NBS) for cystic fibrosis (CF) was universally implemented in the United States in 2010 to improve disease outcomes. Despite universal screening, disparities in outcomes currently exist between people with CF (PwCF) with Black/African, Asian, Indigenous, and Latino/Hispanic ancestry in comparison to PwCF of European ancestry. This is in part because CFTR panels used for newborn screening are often based on variants common in European ancestries leading to higher rates of false negatives for PwCF from minoritized racial and ethnic groups.

Methods: This study investigated how states evaluate and update their CFNBS algorithms through semi-structured interviews with professionals from four states with ethnically diverse populations and one national consultant. Interviews were transcribed verbatim and analyzed through inductive thematic analysis.

Results: Five themes were identified encompassing facilitators, barriers, and motivations for evaluating and updating CF NBS algorithms. Facilitators of effective evaluation and updating of algorithms included effective communication with CF clinical centers and extensive support for CF as compared to other conditions. Although participants stated that their respective NBS programs were aware of the disparate impact of their CF panels on PwCF from minoritized racial and ethnic groups, motivations to decrease this disparity were hampered by a range of funding and logistical barriers, such as limited information about false negative cases and difficulties incorporating next generation sequencing technology.

Conclusions: This study shed light on the experiences of states considering alterations to their CFNBS panels, revealing several key barriers and facilitators to implementing equitable CFNBS algorithms.

This article underscores the critical importance of thorough physical examinations and the need to investigate secondary causes in cases of refractory pneumothorax. The identification of hereditary multiple exostoses (HME) as the underlying condition highlights the necessity of considering rare etiologies, particularly in atypical presentations. While exostoses typically affect long bones, they can also involve the ribs and scapulae, leading to complications such as pneumothorax. In pediatric patients, where multiple symptoms may arise from a single condition, a multidisciplinary approach is essential for accurate diagnosis and effective management.

Study objectives: Rapid growth in childhood predisposes to obesity and cardiometabolic diseases in adulthood. While obstructive sleep apnea (OSA) is bidirectionally linked to obesity, its developmental origins are sparsely studied. We examined associations between postnatal growth and the risk of OSA in adulthood.

Methods: We included adults whose childhood anthropometric data was collected in the New Delhi Birth Cohort study. The risk of OSA was defined by the Berlin Questionnaire (BQ) with and without the obesity criterion. Using logistic regression, we studied associations of OSA risk with conditional growth parameters, which are statistically independent measures of gain in height, weight, and body mass index (BMI), during infancy (0-2 years), early childhood (2-5 years), and late childhood (5-11 years).

Results: Among 521 subjects (58.9% males) with a mean (SD) age of 40.9 (1.7) years, 30.9% had a high risk of OSA. On multivariate analysis, a high risk of OSA was associated with a higher conditional BMI in infancy (odds ratio: 1.25; 95% confidence interval: 1.00-1.57; p = 0.048) and early childhood (1.35; 1.07-1.69; p = 0.011). Higher risk of OSA was associated with greater conditional weight in early childhood (1.34; 1.06-1.68; p = 0.013). Using the modified BQ definition without obesity, adult risk of OSA was significantly associated with a higher adult BMI instead of childhood conditional BMIs.

Conclusions: Greater gain in conditional BMI or weight in early childhood is associated with a high risk of OSA in middle age, which is mediated by a higher attained adult BMI.

Juvenile systemic sclerosis (jSSc), the pediatric counterpart of systemic sclerosis (SSc), is a rare autoimmune disorder characterized by vasculopathy and fibrotic disorders. It ranks among the rheumatologic diseases with the highest rates of morbidity and mortality, predominantly impacting females. Although a universally accepted classification for jSSc remains elusive, a provisional classification proposed in 2007 integrates major and minor criteria, reflecting the involvement of diverse organs and tissues. Pulmonary manifestations are relatively common in jSSc, occurring in 36% to 55% of cases. Particularly lung complications include children s interstitial lung disease (chILD), pulmonary arterial hypertension (PAH) and nodules. The aim of this paper is to describe the main pulmonary manifestations of patients with jSSc in relation to SSc, highlighting fundamental pathophysiological, and clinical features based on the latest literature data.

Nontypeable Haemophilus influenzae (NTHi) and Streptococcus pneumoniae (pneumococcus) are pathobionts that share common environmental niches within the upper respiratory tract. They can form part of the resident upper airway microbiota, but under certain environmental circumstances become pathogenic and induce disease. In children, both organisms have a considerable impact on the healthcare system, commonly causing acute otitis media and pneumonia. They are also associated with chronic biofilm-mediated respiratory infections, such as persistent middle ear effusions and chronic suppurative otitis media, and in the lower airways with protracted bacterial bronchitis and bronchiectasis. Consequently, both organisms are responsible for large numbers of antibiotic prescriptions and substantial healthcare costs. The complex relationship between NTHi and pneumococcal co-interaction during colonization, infection and biofilm formation is poorly understood and a greater understanding is needed to facilitate development of future therapies, and novel interventions and prevention strategies. Co-infections with both bacteria can result in more severe disease, with disease severity likely mediated by their ability to cooperate in some in vivo niches. However, this relationship is not always straightforward, as under certain conditions, these two bacteria compete rather than cooperate. Current opinion supports developing a vaccine targeting NTHi strains, as well as a combined vaccine targeting both NTHi and pneumococci to decrease the respiratory disease burden in young children. This review summarizes our current knowledge of the interactions between NTHi and pneumococci and speculates on the future directions of research to understand how these bacteria co-exist and how to better prevent and treat NTHi and pneumococcal infection.

Introduction: Cystic Fibrosis (CF) is a multisystem autosomal recessive disease characterized by thick, sticky mucus which causes lung disease, pancreatic insufficiency, and many other manifestations. Constipation is a common complication in CF and few advances in treatment have been made until recent years. Linaclotide is a treatment approved for chronic idiopathic constipation and irritable bowel syndrome with constipation. This case series investigates the potential for use of this agent in adult people with CF (pwCF).

Methods: A retrospective case series of 39 pwCF who are currently or previously prescribed linaclotide was completed at two adult Cystic Fibrosis Foundation (CFF) Accredited Care Centers. All patients 18 years and older were included with no exclusions. We reported results using descriptive statistics.

Results: A total of 39 patients were identified for inclusion. The daily starting dose of linaclotide did vary with 18%, 72%, and 10% started on 72 mcg, 145 mcg, and 290 mcg respectively. Most patients (n = 30, 77%) reported experiencing no side effects. Of the total patients, 15% (n = 6) reported the medicine was not effective and 10% (n = 4) had to stop therapy due to adverse reactions. More than half of patients started on therapy were able to reduce baseline treatments for constipation.

Conclusion: While this case series shows compelling data that may indicate benefit and tolerability of linaclotide use in pw CF, more research is needed to fully evaluate safety and efficacy of linaclotide for treating constipation in pwCF.