scholarly journals Summary of Utah Project on Exfoliation Syndrome (UPEXS): using a large database to identify systemic comorbidities

2021 ◽  
Vol 6 (1) ◽  
pp. e000803
Author(s):  
Christian James Pompoco ◽  
Karen Curtin ◽  
Samuel Taylor ◽  
Chase Paulson ◽  
Caleb Shumway ◽  
...  

The purpose of the Utah Project on Exfoliation Syndrome (UPEXS) is to identify associations between exfoliation syndrome (XFS) and other diseases that share the commonality of abnormalities in elastin and Lysyl Oxidase-Like 1 gene regulation. The UPEXS is unique because it uses the Utah Population Database, which is linked to the Utah genealogy, that contains a compilation of large pedigrees of most families in the state of Utah that go back multiple generations (3 to ≥11). The health and medical records of these family members are linked to vital records and can be used effectively in studies focused on genetic disorders like XFS, where familial clustering of a disorder is a trend. There is increasing evidence that patients with XFS have a higher risk of certain systemic disorders that reflect the systemic tissue abnormalities of XFS. Epidemiological studies focused on patients with XFS have shown that there is an increased risk of these individuals developing other pathologies that have abnormalities in extracellular matrix metabolism and repair. UPEXS has focused on suspected comorbidities that involve abnormalities in elastin maintenance, a protein that plays a role in the makeup of the extracellular matrix. In this paper, the results from the analysis of chronic obstructive pulmonary disease, inguinal hernias, pelvic organ prolapse, obstructive sleep apnoea and atrial fibrillation are summarised along with the utility of using such a large dataset.

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jonás Carmona-Pírez ◽  
Beatriz Poblador-Plou ◽  
Ignatios Ioakeim-Skoufa ◽  
Francisca González-Rubio ◽  
Luis Andrés Gimeno-Feliú ◽  
...  

AbstractChronic obstructive airway diseases such as chronic obstructive pulmonary disease (COPD), asthma, rhinitis, and obstructive sleep apnea (OSA) are amongst the most common treatable and preventable chronic conditions with high morbidity burden and mortality risk. We aimed to explore the existence of multimorbidity clusters in patients with such diseases and to estimate their prevalence and impact on mortality. We conducted an observational retrospective study in the EpiChron Cohort (Aragon, Spain), selecting all patients with a diagnosis of allergic rhinitis, asthma, COPD, and/or OSA. The study population was stratified by age (i.e., 15–44, 45–64, and ≥ 65 years) and gender. We performed cluster analysis, including all chronic conditions recorded in primary care electronic health records and hospital discharge reports. More than 75% of the patients had multimorbidity (co-existence of two or more chronic conditions). We identified associations of dermatologic diseases with musculoskeletal disorders and anxiety, cardiometabolic diseases with mental health problems, and substance use disorders with neurologic diseases and neoplasms, amongst others. The number and complexity of the multimorbidity clusters increased with age in both genders. The cluster with the highest likelihood of mortality was identified in men aged 45 to 64 years and included associations between substance use disorder, neurologic conditions, and cancer. Large-scale epidemiological studies like ours could be useful when planning healthcare interventions targeting patients with chronic obstructive airway diseases and multimorbidity.


2021 ◽  
Vol 12 ◽  
Author(s):  
Manyun Tang ◽  
Yidan Wang ◽  
Mengjie Wang ◽  
Rui Tong ◽  
Tao Shi

Background: Patients with chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSAS) overlap syndrome (OS) are thought to be at increased risk for cardiovascular diseases.Objective: To evaluate the burden of cardiovascular diseases and long-term outcomes in patients with OS.Methods: This was a retrospective cohort study. The prevalence of cardiovascular diseases and 1-year mortality were compared among patients diagnosed with OS (OS group), COPD alone (COPD group) and OSAS alone (OSAS group), and Cox proportional hazards models were used to assess independent risk factors for all-cause mortality.Results: Overall, patients with OS were at higher risk for pulmonary hypertension (PH), heart failure and all-cause mortality than patients with COPD or OSAS (all p < 0.05). In multivariate Cox regression analysis, the Charlson comorbidity index (CCI) score [adjusted hazard ratio (aHR): 1.273 (1.050–1.543); p = 0.014], hypertension [aHR: 2.006 (1.005–4.004); p = 0.048], pulmonary thromboembolism (PTE) [aHR: 4.774 (1.335–17.079); p = 0.016] and heart failure [aHR: 3.067 (1.521–6.185); p = 0.002] were found to be independent risk factors for 1-year all-cause mortality.Conclusion: Patients with OS had an increased risk for cardiovascular diseases and 1-year mortality. More efforts are needed to identify the causal relationship between OS and cardiovascular diseases, promoting risk stratification and the management of these patients.


2019 ◽  
Author(s):  
Chen Xi Yang ◽  
Henry Shi ◽  
Irving Ding ◽  
Cheng Wei Tony Yang ◽  
Edward Kyoo-Hoon Kim ◽  
...  

ABSTRACTEpidemiological studies have shown that female smokers are at higher risk of chronic obstructive pulmonary disease (COPD). Female patients have worse symptoms and health status and increased risk of exacerbations. We determined the differences in the transcriptome of the airway epithelium between males and females at baseline and in response to smoking. We processed public gene expression data of human airway epithelium into a discovery cohort of 211 subjects (never smokers n=68; current smokers n=143) and two replication cohorts of 104 subjects (21 never, 52 current, and 31 former smokers) and 238 subjects (99 current and 139 former smokers. We analyzed gene differential expression with smoking status, sex, and smoking-by-sex interaction and used network approaches for modules’ level analyses. We identified and replicated two differentially expressed modules between the sexes in response to smoking with genes located throughout the autosomes and not restricted to sex chromosomes. The two modules were enriched in autophagy (up-regulated in female smokers) and response to virus and type 1 interferon signaling pathways which were down-regulated in female smokers compared to males. The results offer insights into the molecular mechanisms of the sexually dimorphic COPD risk and presentation potentially enabling a precision medicine approach to COPD.


2015 ◽  
Vol 24 (136) ◽  
pp. 306-319 ◽  
Author(s):  
Ali Mamane ◽  
Isabelle Baldi ◽  
Jean-François Tessier ◽  
Chantal Raherison ◽  
Ghislaine Bouvier

This article aims to review the available literature regarding the link between occupational exposure to pesticides and respiratory symptoms or diseases. Identification of epidemiological studies was performed using PubMed. 41 articles were included, 36 regarding agricultural workers and five regarding industry workers.Among the 15 cross-sectional studies focusing on respiratory symptoms and agricultural pesticide exposure, 12 found significant associations with chronic cough, wheeze, dyspnoea, breathlessness or chest tightness. All four studies on asthma found a relationship with occupational exposure, as did all three studies on chronic bronchitis. The four studies that performed spirometry reported impaired respiratory function linked to pesticide exposure, suggestive of either obstructive or restrictive syndrome according to the chemical class of pesticide.12 papers reported results from cohort studies. Three out of nine found a significant relationship with increased risk of wheeze, five out of nine with asthma and three out of three with chronic bronchitis. In workers employed in pesticide production, elevated risks of chronic obstructive pulmonary disease (two studies out of three) and impaired respiratory function suggestive of an obstructive syndrome (two studies out of two) were reported.In conclusion, this article suggests that occupational exposure to pesticides is associated with an increased risk of respiratory symptoms, asthma and chronic bronchitis, but the causal relationship is still under debate.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tak Kyu Oh ◽  
In-Ae Song

Abstract Background The impact of underlying chronic respiratory diseases (CRDs) on the risk and mortality of patients with coronavirus disease 2019 (COVID-19) remains controversial. We aimed to investigate the effects of CRDs on the risk of COVID-19 and mortality among the population in South Korea. Methods The NHIS-COVID-19 database in South Korea was used for data extraction for this population-based cohort study. Chronic obstructive pulmonary disease (COPD), asthma, interstitial lung disease (ILD), lung cancer, lung disease due to external agents, obstructive sleep apnea (OSA), and tuberculosis of the lungs (TB) were considered CRDs. The primary endpoint was a diagnosis of COVID-19 between January 1st and June 4th, 2020; the secondary endpoint was hospital mortality of patients with COVID-19. Multivariable logistic regression modeling was used for statistical analysis. Results The final analysis included 122,040 individuals, 7669 (6.3%) were confirmed as COVID-19 until 4 June 2020, and 251 patients with COVID-19 (3.2%) passed away during hospitalization. Among total 122,040 individuals, 36,365 individuals were diagnosed with CRD between 2015 and 2019: COPD (4488, 3.6%), asthma (33,858, 27.2%), ILD (421, 0.3%), lung cancer (769, 0.6%), lung disease due to external agents (437, 0.4%), OSA (550, 0.4%), and TB (608, 0.5%). Among the CRDs, patients either with ILD or OSA had 1.63-fold (odds ratio [OR] 1.63, 95% confidence interval [CI] 1.17–2.26; P = 0.004) and 1.65-fold higher (OR 1.65, 95% CI 1.23–2.16; P < 0.001) incidence of COVID-19. In addition, among patients with COVID-19, the individuals with COPD and lung disease due to external agents had 1.56-fold (OR 1.56, 95% CI 1.06–2.2; P = 0.024) and 3.54-fold (OR 3.54, 95% CI 1.70–7.38; P < 0.001) higher risk of hospital mortality. Conclusions Patients with OSA and ILD might have an increased risk of COVID-19. In addition, COPD and chronic lung disease due to external agents might be associated with a higher risk of mortality among patients with COVID-19. Our results suggest that prevention and management strategies should be carefully performed.


2017 ◽  
Vol 13 (3) ◽  
pp. 183 ◽  
Author(s):  
Mellar P. Davis, MD, FCCP, FAAHPM ◽  
Bertrand Behm, MD ◽  
Diwakar Balachandran, MD

Opioids adversely influence respiration in five distinct ways. Opioids reduce the respiratory rate, tidal volume, amplitude, reflex responses to hypercapnia and hypoxia, and arousability related necessary for respiratory adaptive responses. Opioids cause impairment of upper pharyngeal dilator muscles leading to obstructive apnea. Opioids cause complex sleep disordered breathing (SDB) consisting of central sleep apnea and obstructive sleep apnea. Clinically opioids worsen preexisting SDB. Recent studies have shown increased morbidity and mortality in patients receiving opioids for chronic noncancer pain and chronic obstructive pulmonary disease, which appear to be related to cardiovascular events, not overdose. Both patient populations are at risk for sleep disordered breathing and increased risk for adverse cardiovascular events on opioids for dyspnea or pain. This review discusses the influence of opioids on respiration and SDB and will review the adverse respiratory and cardiovascular effects of opioid use in at risk populations. Recommendations regarding management will follow as a summary.


PLoS ONE ◽  
2021 ◽  
Vol 16 (11) ◽  
pp. e0259822
Author(s):  
Antonio Gimeno-Miguel ◽  
Kevin Bliek-Bueno ◽  
Beatriz Poblador-Plou ◽  
Jonás Carmona-Pírez ◽  
Antonio Poncel-Falcó ◽  
...  

Background Clinical outcomes among COVID-19 patients vary greatly with age and underlying comorbidities. We aimed to determine the demographic and clinical factors, particularly baseline chronic conditions, associated with an increased risk of severity in COVID-19 patients from a population-based perspective and using data from electronic health records (EHR). Methods Retrospective, observational study in an open cohort analyzing all 68,913 individuals (mean age 44.4 years, 53.2% women) with SARS-CoV-2 infection between 15 June and 19 December 2020 using exhaustive electronic health registries. Patients were followed for 30 days from inclusion or until the date of death within that period. We performed multivariate logistic regression to analyze the association between each chronic disease and severe infection, based on hospitalization and all-cause mortality. Results 5885 (8.5%) individuals showed severe infection and old age was the most influencing factor. Congestive heart failure (odds ratio -OR- men: 1.28, OR women: 1.39), diabetes (1.37, 1.24), chronic renal failure (1.31, 1.22) and obesity (1.21, 1.26) increased the likelihood of severe infection in both sexes. Chronic skin ulcers (1.32), acute cerebrovascular disease (1.34), chronic obstructive pulmonary disease (1.21), urinary incontinence (1.17) and neoplasms (1.26) in men, and infertility (1.87), obstructive sleep apnea (1.43), hepatic steatosis (1.43), rheumatoid arthritis (1.39) and menstrual disorders (1.18) in women were also associated with more severe outcomes. Conclusions Age and specific cardiovascular and metabolic diseases increased the risk of severe SARS-CoV-2 infections in men and women, whereas the effects of certain comorbidities are sex specific. Future studies in different settings are encouraged to analyze which profiles of chronic patients are at higher risk of poor prognosis and should therefore be the targets of prevention and shielding strategies.


2021 ◽  
Author(s):  
Mengqing Xiong ◽  
Zhiling Zhao ◽  
Qingrong Nie ◽  
Zhihong Shi ◽  
Bin Wu ◽  
...  

Abstract Background: BMI increase risk for obstructive sleep apnea (OSA), while low BMI and overweight/obesity has paradoxical effect on chronic obstructive pulmonary disease (COPD) outcomes. We aimed to examine the association between BMI and OSA risk in COPD patients. Methods: A number of 1637 COPD subjects included in the final analysis. Logistic regression was performed to investigate the association between BMI or BMI category and OSA risk. Using restricted cubic splines to flexibly model a nonlinear relationship. Results: In this COPD cohort, BMI or BMI category was significantly associated with risk of OSA. Using BMI 18.5–23.9 kg/m2 (normal weight) as a reference group, the overweight group (BMI: 24–27.9 kg/m2) (OR 1.348, 95%CI 1.057-1.718) and the obese group (BMI≥28 kg/m2) (OR 2.596, 95%CI 1.825-3.692) had higher risk of OSA in the crude model; after the sex- and age- adjusted, the association remained significant, while in the fully adjusted model, the obese group still had 2.623 times higher risk and the overweight group had a trend of higher risk but the underweight group (BMI<18.5 kg/m2) also showed a trend of higher OSA risk than the normal weight group (p value 0.071).In restricted cubic spline model, BMI exhibited a J-shaped association with OSA, and the risk of OSA reached a nadir at BMIs in the range of 20-24 kg/m2, with a positive association above or below.Conclusions: BMI had a J-shaped association with OSA in this COPD patient cohort; lower or higher BMIs were associated with an increased risk of OSA.Trial registration: This study registered in ClinicalTrials.gov (Clinical Trials ID: NCT 03182309).


2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Chen Xi Yang ◽  
Henry Shi ◽  
Irving Ding ◽  
Stephen Milne ◽  
Ana I. Hernandez Cordero ◽  
...  

AbstractEpidemiological studies have shown that female smokers are at higher risk of chronic obstructive pulmonary disease (COPD). Female patients have worse symptoms and health status and increased risk of exacerbations. We determined the differences in the transcriptome of the airway epithelium between males and females, as well the sex-by-smoking interaction. We processed public gene expression data of human airway epithelium into a discovery cohort of 211 subjects (never smokers n = 68; current smokers n = 143) and two replication cohorts of 104 subjects (21 never, 52 current, and 31 former smokers) and 238 subjects (99 current and 139 former smokers. We analyzed gene differential expression with smoking status, sex, and smoking-by-sex interaction and used network approaches for modules’ level analyses. We identified and replicated two differentially expressed modules between the sexes in response to smoking with genes located throughout the autosomes and not restricted to sex chromosomes. The two modules were enriched in autophagy (up-regulated in female smokers) and response to virus and type 1 interferon signaling pathways which were down-regulated in female smokers compared to males. The results offer insights into the molecular mechanisms of the sexually dimorphic effect of smoking, potentially enabling a precision medicine approach to smoking related lung diseases.


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