Citations

Limited studies have explored the effects of individual and environmental factors on sleep disturbance in individuals with inflammatory bowel disease (IBD), which is vital for informing future sleep interventions. Thus, the purpose of this study was to explore the possible mediated effects of potential precipitating and/or perpetuating factors on the relationship between sleep disturbance and symptoms in adults with IBD. This is a correlational study of adults with IBD recruited from ResearchMatch. Survey questions asked about demographics, clinical characteristics, sleep hygiene, sleep beliefs and attitudes, sleep environment, sleep control, and symptoms (sleep disturbance, abdominal pain, anxiety, depression, fatigue). Data analysis included descriptive statistics, Pearson correlations, and mediation analysis. We included 250 adults with IBD ( M = 37.9 years old, 64.8% female, 72.4% white). Fifty-four percent of the sample self-reported having a diagnosed sleep disorder. Sleep hygiene and sleep beliefs and attitudes significantly mediated the relationship between sleep disturbance and symptoms (i.e., fatigue, depression, anxiety, and abdominal pain). Whereas the sleep environment and sleep control did not significantly mediate the relationship between sleep disturbance and symptoms. Individuals with IBD experience sleep disturbances, alongside symptoms of anxiety, depression, abdominal pain, and fatigue. Mediation analysis identified sleep hygiene and sleep beliefs, and attitudes as partial mediators. Considering cognitive-behavioral therapy for insomnia is recommended for restructuring these mediating factors. Participants also faced moderate environmental disturbances, suggesting a need for further investigation in this population.

Abstract Background Despite advances in diagnosis and management, the interstitial lung disease (ILD) lexicon is plagued by ambiguous and inconsistent terminology that complicates communication and impedes knowledge generation. The objective of this Fleischner Society Consensus Statement was to produce standardized terminology for ILD multidisciplinary diagnoses and major phenotypes. Methods Interviews with 10 experts were used to identify ILD clinical diagnoses and major phenotypes. The preferred terms for each entity and potential alternatives were identified, alongside the rationale for the preferred term. Entities with more than one potential term were the subject of an online modified Delphi survey posed to the 29 committee members, aiming to achieve consensus. Committee members rated their agreement with the initially preferred term—5 (strongly agree), 4 (agree), 3 (neutral/unsure), 2 (disagree), and 1 (strongly disagree)—with the option to provide additional comments. Median score ≥4 and interquartile range ≤1 were considered consensus agreement. Terms not reaching agreement were discussed by video conference, followed by an additional survey that incorporated feedback. Results From the 60 initial terms, there were two root terms that required upfront consensus before survey initiation (ILD and interstitial pneumonia) and another eight terms that had no alternative suggested by the committee or in the literature. Agreement was met by 47/50 terms (94%) in Round 1 of the survey. The three terms (6%) that did not reach agreement met agreement in Round 2. Conclusions This document provides standardized recommended terms for ILD multidisciplinary diagnoses and major phenotypes that will facilitate communication among clinicians, researchers, patients, and other stakeholders.

Abstract Introduction The prevalence of pre‐pregnancy obesity, including pre‐pregnancy class 3 obesity, has increased over time, with significant implications for maternal and neonatal well‐being. Regular physical activity may mitigate these risks. Available data suggest that most pregnant individuals do not meet the recommended physical activity guidelines of accumulating at least 150 min of moderate‐intensity exercise per week. Importantly, limited data are available regarding physical activity patterns in individuals with higher body mass index (BMI), particularly for those with class 3 obesity (BMI ≥ 40 kg/m 2 ). The aim of this study was to evaluate whether pregnant individuals are meeting physical activity guidelines. We assessed self‐reported physical activity across BMI categories including those with class 3 obesity, further subdivided into BMI of 40–49.9 and ≥ 50 kg/m 2 . Methods This is a retrospective cohort study of individuals at an academic hospital system who delivered between May 1, 2018 and May 1, 2023. To be included, individuals had to respond to the following two‐item physical activity questionnaire early in pregnancy: (1) “On average, how many days per week do you engage in moderate to strenuous exercise?” And (2) “On average, how many minutes do you engage in exercise at this level?” From these two questions, total minutes per week of activity were calculated. Individuals met physical activity guidelines if they engaged in ≥ 150 min of physical activity per week. Data were analyzed using Kruskal–Wallis and Chi‐square tests. Results A total of 6884 individuals were incl uded in the cohort. A total of 510 individuals met the criteria for class 3 obesity, with 61 having a pre‐pregnancy BMI ≥ 50 kg/m 2 . Among normal weight individuals (BMI 18.5–24.9 kg/m 2 ), 34% met physical activity guidelines. Overweight and obese individuals were significantly less physically active than those with normal BMI ( p < 0.05). Only 22% of those with BMI 40–49.9 kg/m 2 and 18% of those with BMI ≥ 50 kg/m 2 reported sufficient physical activity. Conclusion Our results are consistent with existing data, showing that pregnant individuals are not meeting physical activity goals. Pregnant individuals who are overweight or obese engage in significantly less physical activity compared to those with a BMI in the normal range, with the lowest levels of activity observed among individuals with class 3 obesity. More data are needed on physical activity among pregnant individuals with class 3 obesity, including evaluation of potential interventions to increase activity as well as barriers to participation. Increasing physical activity in this group may positively impact both maternal and neonatal health.

Abstract Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv. Methods An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM. Results A total of 3158 subjects in 1043 families with TTNtv-related DCM were studied. TTNtv-positive subjects were 21-fold more likely to develop DCM [OR, 21.21; 95% confidence interval (CI), 14.80–30.39]. Disease onset was earlier in males, but was similar for TTNtv of different types and locations. The presence of clinical risk factors was associated with earlier DCM onset (OR, 3.41; 95% CI, 2.06–5.64), with a prior history of atrial fibrillation having a two-fold increased odds of DCM (OR, 2.05; 95% CI, 1.27–3.32). The prevalence of clinical risk factors increased with age; however, the strength of the DCM association was greatest for young-onset (&lt;30 years) disease (OR, 4.75; 95% CI, 2.35–9.60). Administration of beta-adrenergic receptor or renin-angiotensin system-blocking drugs prior to overt DCM was associated with 87% reduced odds of DCM (OR, .13; 95% CI, .08–.23). Conclusions Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.

Background Atrial fibrillation (AF) impacts management decisions in valvular heart disease but its significance in patients with chronic aortic regurgitation (AR) is not well established. Objectives To evaluate the prevalence and prognostic role of AF in patients with chronic, haemodynamically significant AR. Methods Adults with chronic ≥moderate-to-severe AR, from March 2004 to April 2019, were retrospectively identified. Those with acute AR, moderate or worse other valve disease or prior valve surgery were excluded. Patients with AF were identified based on 12-lead ECGs, 1-lead ECGs (showing AF for ≥30 s), or episodes recorded by implanted cardiac devices. Primary outcome was all-cause mortality. Cox regression models were used to assess associations with mortality: model 1 adjusted for age, symptoms (New York Heart Association class II–IV), Charlson Comorbidity Index, left ventricle (LV) end-systolic volume index and AF; model 2 added left atrial volume index and model 3 further added systolic pulmonary artery pressure. Results Of the 1006 included patients (age 59±18 years; 822 (82%) men), 446 (46%) had hypertension and 364 (36%) had a bicuspid aortic valve. AF was present in 161 (16%) patients at the time of ≥moderate-to-severe AR diagnosis. During a median follow-up of 1.6 years (IQR 0.2–6.2), AF was associated with an increased mortality risk in univariate and in all three multivariable models (HR 1.61 (95% CI 1.07 to 2.43), HR 2.21 (95% CI 1.31 to 3.72) and HR 2.06 (95% CI 1.21 to 3.52), respectively), including after propensity matching (HR 1.58 (95% CI 1.01 to 2.48)). Conclusions AF is present in one in six patients with chronic≥moderate-to-severe AR and is associated with an increased risk of mortality even after adjusting for measures of LV systolic and diastolic function. There is a need for future prospective studies to validate these findings and evaluate AF as a potential trigger for early surgery.

Abstract Background Preexisting diabetes (PDM) increases the risk of maternal and perinatal mortality and morbidity. Reduction of maternal hyperglycemia prior to and during pregnancy can reduce these risks. Despite compelling evidence that preconception care (PCC), which includes achieving strict glycemic goals, reduces the risk of congenital malformations and other adverse pregnancy outcomes, only a minority of individuals receive PCC. Suboptimal pregnancy outcomes demonstrated in real-world data highlight the need to further optimize prenatal glycemia. New evolving technology shows promise in helping to achieve that goal. Dysglycemia is not the only driver of poor pregnancy outcomes in PDM. The increasing impact of obesity on pregnancy outcomes underscores the importance of optimal nutrition and management of insulin sensitizing medications during prenatal care for PDM. Objective To provide recommendations for the care of individuals with PDM that lead to a reduction in maternal and neonatal adverse outcomes. Methods The Guideline Development Panel (GDP) composed of a multidisciplinary panel of clinical experts, along with experts in guideline methodology and systematic literature review, identified and prioritized 10 clinically relevant questions related to the care of individuals with diabetes before, during and after pregnancy. The GDP prioritized randomized controlled trials (RCTs) evaluating the effects of different interventions (eg, PCC, nutrition, treatment options, delivery) during the reproductive life cycle of individuals with diabetes, including type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM). Systematic reviews queried electronic databases for publications related to these 10 clinical questions. The Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology was used to assess the certainty of evidence and develop recommendations. The approach incorporated perspectives from 2 patient representatives and considered patient values, costs and resources required, acceptability and feasibility, and impact on health equity of the proposed recommendations. Results In individuals with diabetes mellitus who have the possibility of becoming pregnant, we suggest asking a screening question about pregnancy intention at every reproductive, diabetes, and primary care visit. Screening for pregnancy intent is also suggested at urgent care/emergency room visits when clinically appropriate (2 | ⊕OOO). This was suggested based on indirect evidence demonstrating a strong association between PCC and both reduced glycated hemoglobin (HbA1c) at the first prenatal visit and congenital malformations. In individuals with diabetes mellitus who have the possibility of becoming pregnant, we suggest use of contraception when pregnancy is not desired (2 | ⊕⊕OO). This was suggested based on indirect evidence in women with diabetes, where PCC—including contraception as a key component—showed a clinically significant association with improvements in first-trimester HbA1c and the rate of congenital malformations, together with indirect evidence from the general population regarding the reduction of unplanned pregnancies and pregnancy terminations with the use of contraception. In individuals with T2DM, we suggest discontinuation of glucagon-like peptide-1 receptor agonist (GLP-1RA) before conception rather than discontinuation between the start of pregnancy and the end of the first trimester (2 | ⊕OOO). This was suggested based on limited data on risk of exposure to GLP-1RA receptor agonists during pregnancy. In pregnant individuals with T2DM already on insulin, we suggest against routine addition of metformin (2 | ⊕OOO). This was suggested based on the GDP judgment that the benefit of adding metformin to insulin to achieve decrease in rates of large for gestational age infants did not outweigh the potential harm of increasing the risk of small for gestational age infants or adverse childhood outcomes related to changes in body composition. In individuals with PDM, we suggest either a carbohydrate-restricted diet (&lt;175 g/day) or usual diet (&gt;175 g/day) during pregnancy (2 | ⊕OOO). This was suggested based on the GDP judgment that the available evidence was limited and very indirect, resulting in significant uncertainty about the net benefits or harms. As such, the evidence was insufficient to support a recommendation either for or against a carbohydrate intake cutoff of 175 g/day. In pregnant individuals with T2DM, we suggest either the use of a continuous glucose monitor (CGM) or self-monitoring of blood glucose (SMBG) (2 | ⊕OOO). There is lack of direct evidence supporting superiority of CGM use over SMBG for T2DM during pregnancy. There is indirect evidence supporting improved glucometrics with the use of CGM for individuals with T2DM outside of pregnancy, substantial improvements in neonatal outcomes for individuals with T1DM using CGM during pregnancy and the potential for decreasing adverse pregnancy outcomes with improved glucometrics in individuals with T2DM. In individuals with PDM using a CGM, we suggest against the use of a single 24-hour CGM target &lt;140 mg/dL (7.8 mmol/L) in place of standard-of-care pregnancy glucose targets of fasting &lt;95 mg/dL (5.3 mmol/L), 1-hour postprandial &lt;140 mg/dL (7.8 mmol/L), and 2-hour postprandial &lt; 120 mg/dL (6.7 mmol/L) (2 | ⊕OOO). This was suggested based on indirect evidence that associated adverse pregnancy outcomes with a fasting glucose &gt; 126 mg/dL (7 mmol/L). In individuals with T1DM who are pregnant, we suggest the use of a hybrid closed-loop pump (pump adjusting automatically based on CGM) rather than an insulin pump with CGM (without an algorithm) or multiple daily insulin injections with CGM (2 | ⊕OOO). This was suggested based on a meta-analysis of RCTs which demonstrated improvement in glucometrics with increased time in range (MD +3.81%; CI −4.24 to 11.86) and reduced time below range (MD −0.85%; CI −1.98 to 0.28) with the use of hybrid closed-loop pump technology. In individuals with PDM, we suggest early delivery based on risk assessment rather than expectant management (2 | ⊕OOO). This was suggested based on indirect evidence that risks may outweigh benefits of expectant management beyond 38 weeks gestation and that risk assessment criteria may be useful to inform ideal delivery timing. In individuals with PDM (including those with pregnancy loss or termination), we suggest postpartum endocrine care (diabetes management), in addition to usual obstetric care (2 | ⊕OOO). As the postpartum period frequently overlaps with preconception, this was suggested based on indirect evidence demonstrating a strong association between PCC and both reduced HbA1c at the first prenatal visit and congenital malformations. Conclusion The data supporting these recommendations were of very low to low certainty, highlighting the urgent need for research designed to provide high certainty evidence to support the care of individuals with diabetes before, during, and after pregnancy. Investment in implementation science for PCC is crucial to prevent significant mortality and morbidity for individuals with PDM and their children. RCTs to further define glycemic targets in pregnancy and refinement of emerging technology to achieve those targets can lead to significant reduction of harm and in the burden of diabetes care. Data on optimal nutrition and obesity management in pregnancy are lacking. More research on timing of delivery in women with PDM is also needed.

Introduction: Despite ongoing diversity initiatives, Otolaryngology – Head and Neck surgery continues to face a widening representation gap as the Latinx population in the United States grows. To address this disparity, novel strategies for recruiting Latinx medical students into the specialty must be explored. Methods: A descriptive, cross-sectional survey was distributed to Latinx medical students in the United States via social media platforms (Facebook, Twitter, Instagram) and Latino Medical Student Association (LMSA) chapters. Results: Most respondents were unfamiliar with Otolaryngology-specific health disparities affecting Latinx communities and indicated an interest in learning more about these disparities. Most respondents indicated that early exposure to Otolaryngology disparities affecting Latinx communities could increase interest in exploring the specialty. Additionally, most participants deemed a department's commitment to diversity, equity and inclusion and opportunities to serve Latinx patients to be necessary residency program attributes when deciding between programs (69.2% and 66.7%, respectively). Conclusion: Integrating community outreach and education on Otolaryngology-related health disparities into undergraduate medical education may serve as a promising strategy to enhance Latinx recruitment and representation in the specialty.

Abstract Motivation Efforts to address health disparities are often limited by the lack of robust computational tools for inferring genetic ancestry by calculating an individual’s genetic similarity to continental groups. We have already shown that a preferred alternative to self-described race is using ancestry-informative markers (AIMs) that can be classified into ancestral components and used to estimate their similarity to those of known populations to identify continental groups. However, real-world genomic data can present challenges, including limited availability of germline DNA, a small number of AIMs for each sample, and the use of different variant calling software, limiting the application of existing solutions. Results Here, we describe a novel supervised machine-learning tool AncestryGeni, which infers genetic ancestry for samples with even a hundred markers and is applicable to any genomic data, including whole exome sequencing (WES) and RNA sequencing (RNA-Seq) data. Applying AncestryGeni to a real-world genomic dataset obtained from the Multiple Myeloma Research Foundation (MMRF) CoMMpass study, we show that it is more accurate than the commonly used FastNGSadmix when using nonstandard genomic material. We also demonstrate that when using AncestryGeni, the tumor-derived sequence obtained from WES and RNA-Seq can be a robust data source to accurately estimate an individual’s genetic similarity to a continental group. Availability and implementation AncestryGeni pipeline is available at https://github.com/eelhaik/AncestryGeni/tree/main.