Background: Increasing evidence indicates the microbial ecology of chronic obstructive pulmonary disease (COPD) is intricately associated with the disease’s status and severity, and distinct microbial ecological variations exist between COPD and healthy control (HC). This systematic review and meta-analysis aimed to summarize microbial diversity indices and taxa relative abundance of oral, airway, and intestine microbiota of different stages of COPD and HC to make comparisons.Methods: A comprehensive systematic literature search was conducted in PubMed, Embase, the Web of Science, and the Cochrane Library databases to identify relevant English articles on the oral, airway, and intestine microbiota in COPD published between 2003 and 8 May 2023. Information on microbial diversity indices and taxa relative abundance of oral, airway, and intestine microbiota was collected for comparison between different stages of COPD and HC.Results: A total of 20 studies were included in this review, involving a total of 337 HC participants, 511 COPD patients, and 154 AECOPD patients. We observed that no significant differences in alpha diversity between the participant groups, but beta diversity was significantly different in half of the included studies. Compared to HC, Prevotella, Streptococcus, Actinomyces, and Veillonella of oral microbiota in SCOPD were reduced at the genus level. Most studies supported that Haemophilus, Lactobacillus, and Pseudomonas were increased, but Veillonella, Prevotella, Actinomyces, Porphyromonas, and Atopobium were decreased at the genus level in the airway microbiota of SCOPD. However, the abundance of Haemophilus, Lactobacillus and Pseudomonas genera exhibited an increase, whereas Actinomyces and Porphyromonas showed a decrease in the airway microbiota of AECOPD compared to HC. And Lachnospira of intestine microbiota in SCOPD was reduced at the genus level.Conclusion: The majority of published research findings supported that COPD exhibited decreased alpha diversity compared to HC. However, our meta-analysis does not confirm it. In order to further investigate the characteristics and mechanisms of microbiome in the oral-airway- intestine axis of COPD patients, larger-scale and more rigorous studies are needed.Systematic review registration: PROSPERO (https://www.crd.york.ac.uk/prospero/), identifier CRD42023418726.

Background: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disease that is mainly caused by PHOX2B mutations. The purpose of this study is to analyze and summarize the clinical and genetic characteristics of CCHS patients in the Chinese population from our study and previous literature.Methods: The potential pathogenic gene mutations of CCHS were identified and verified by next generation sequencing combined with Sanger sequencing, fluorescent probe PCR and capillary electrophoresis. The clinical characteristics and gene mutations of CCHS cases in Chinese population were summarized from our study and previous literature to explore the genotype–phenotype correlations.Results: We identified 48 CCHS cases including three new cases from our report in China. Overall, 77.1% of the patients had PHOX2B polyalanine repeat expansion mutations (PARMs), and the remaining 22.9% had 10 distinct PHOX2B non‐polyalanine repeat expansion mutations (NPARMs). Compared to those with PARMs, patients with NPARMs were more likely to have premature birth (54.5% vs. 2.8%, p < 0.001) and lower birth weight (33.3% vs. 3.2%, p = 0.030), with statistical significance. The patients with PARMs were more likely to have cardiovascular defects (64.9% vs. 27.3%, p = 0.063), cerebral hemorrhage (29.7% vs. 9.1%, p = 0.322) and seizures (37.8% vs. 9.1%, p = 0.151) than those with NPARMs, with no statistical significance.Conclusions: CCHS patients with PHOX2B NPARMs were more likely to have premature birth and low birth weight, while PHOX2B PARMs tended to be positively associated with the risk of cardiovascular defects, cerebral hemorrhage and seizures in Chinese population.

Background: Chronic obstructive pulmonary disease (COPD) pathogenesis involves persistent airway inflammation and remodeling, yet the role of anoikis resistance remains poorly characterized. This study aimed to identify anoikis resistance-related hub genes and evaluate their clinical utility in COPD phenotyping and prognosis. Methods: Integrated bioinformatics analysis of the GSE11906 dataset identified anoikis resistance-related differentially expressed genes (DEGs). Functional enrichment, LASSO regression, and machine learning (RF, SVM, XGB, GLM) were employed to pinpoint core hub genes. Multi-level validation included external datasets (GSE19407), in vitro (CSE-stimulated 16HBE cells), in vivo (cigarette smoke-exposed mice), and clinical samples (PBMCs). Diagnostic and prognostic models were developed using logistic regression. Results: Five core hub genes (UCHL1, ME1, SLC2A1, BMP4, CRABP2) were identified, with ME1, SLC2A1, and BMP4 consistently upregulated in COPD across models and strongly correlated with emphysema index (negative, R = − 0.41 to − 0.45) and airway wall thickness (positive, R = 0.40– 0.45). These genes exhibited significant associations with peribronchial immune cell infiltration. Diagnostic models for emphysema-predominant COPD (AUC = 0.860) and disease staging (AUC = 0.882), along with a prognostic model for hospitalization duration (AUC = 0.867), demonstrated robust clinical performance. Conclusion: ME1, SLC2A1, and BMP4 are pivotal anoikis resistance-related biomarkers in COPD, driving immune dysregulation and structural remodeling. The developed models enable precise phenotyping, severity stratification, and personalized prognosis prediction, advancing precision medicine strategies for COPD management.