Pack, Allan I

ABSTRACT Obstructive sleep apnea (OSA) is a common, heritable disorder with diverse clinical presentations and etiologies. We conducted a genome-wide association meta-analysis of 492,107 individuals, including 46,028 OSA cases, identifying 14 genome-wide significant loci, eight of which are novel. Analyses adjusting for body mass index (BMI) revealed three loci independent of obesity, implicating alternative biological pathways contributing to disease. Integrative functional analyses, including chromatin interaction mapping, fine-mapping, and eQTL colocalization, prioritized candidate effector genes. Notably, implicated genes in chondrocytes were associated with craniofacial morphology in both mouse and human multivariate genotype-phenotype mapping, supporting a role for craniofacial structure in OSA risk. These findings highlight key genetic pathways (obesity-related, neurological, and craniofacial) underlying the development of OSA, offering new insights into its complex etiology.

ABSTRACT Background Evaluation and interpretation of the literature on obstructive sleep apnea (OSA) allows for consolidation and determination of the key factors important for clinical management of the adult OSA patient. Toward this goal, an international collaborative of multidisciplinary experts in sleep apnea evaluation and treatment have produced the International Consensus statement on Obstructive Sleep Apnea (ICS:OSA). Methods Using previously defined methodology, focal topics in OSA were assigned as literature review (LR), evidence‐based review (EBR), or evidence‐based review with recommendations (EBR‐R) formats. Each topic incorporated the available and relevant evidence which was summarized and graded on study quality. Each topic and section underwent iterative review and the ICS:OSA was created and reviewed by all authors for consensus. Results The ICS:OSA addresses OSA syndrome definitions, pathophysiology, epidemiology, risk factors for disease, screening methods, diagnostic testing types, multiple treatment modalities, and effects of OSA treatment on multiple OSA‐associated comorbidities. Specific focus on outcomes with positive airway pressure (PAP) and surgical treatments were evaluated. Conclusion This review of the literature consolidates the available knowledge and identifies the limitations of the current evidence on OSA. This effort aims to create a resource for OSA evidence‐based practice and identify future research needs. Knowledge gaps and research opportunities include improving the metrics of OSA disease, determining the optimal OSA screening paradigms, developing strategies for PAP adherence and longitudinal care, enhancing selection of PAP alternatives and surgery, understanding health risk outcomes, and translating evidence into individualized approaches to therapy.

Abstract Introduction Advanced Practice Providers (APPs; Advanced practice registered nurses, physician assistants) and physicians-in-training (residents, fellows) receive inadequate education on obstructive sleep apnea (OSA)/perioperative OSA risks. However, they are front-line providers assessing these patients. Failure to mitigate this risk has led to significant postoperative morbidity/mortality. We assessed these providers’ perceptions to OSA/perioperative OSA training. Methods Surveys were sent to three provider roles, APPs, residents, and fellows, in four categories of practice at nine academic institutions between May 9-June 30, 2021. Chi-square and Fisher’s exact tests assessed association between survey responses and participant characteristics. False discovery rate adjustment accounted for multiple comparisons, threshold of q<0.05 for statistical significance. Cochran-Mantel-Haenzsel tests evaluated associations stratified by institution. Results 2236 of 6724 (33.3%) participants responded: 48.4% APPs, 11% Fellows and 40.6% Residents. Primary category of practice included: 20.3% Anesthesiology, 8.9% Family Medicine, 34.1%, Internal Medicine (IM)/IM subspecialties, 6.7% Obstetrics/Gynecology/Gynecologic Oncology, 25.9% Surgery/Surgery subspecialties, 4.1% Other.While 93.2% of respondents believed OSA is a risk factor for perioperative complications, fewer respondents reported that they felt adequately trained to assess for OSA (50.9%) in general, with significant differences noted by provider role (range 42-70%, q=0.001) and across the categories of practice (range 12-82%, q=0.001). Even fewer felt adequately trained to assess for OSA in perioperative patients (38.2%) with significant differences noted by provider role (range 31-52%, q=0.001) and across the categories of practice (range 15-84%, q=0.001).Across all categories of practice, respondents indicated that they would like additional educational training about OSA (76.7%). This varied by clinical role (range 64-82%, q=0.003), but not categories of practice (range 73-84%, q=0.13). Furthermore, respondents indicated they also desired additional education about OSA in the perioperative patient (75.5%). This extended across all clinical roles (range 68-77%, q=0.09) and categories of practice (range 72-80%, q=0.09). Conclusion We found significant differences in APP and physician-in-training perceptions of the adequacy of their current training and desire for further OSA/perioperative OSA education. Our study identifies a critical gap and opportunity to improve provider understanding and patient care. Support (If Any) American Academy of Sleep Medicine Foundation (AASMF) award.