scholarly journals Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions

2019 ◽  
Vol 117 (3) ◽  
pp. 1621-1627 ◽  
Author(s):  
Aaron C. Miller ◽  
Alejandro P. Comellas ◽  
Douglas B. Hornick ◽  
David A. Stoltz ◽  
Joseph E. Cavanaugh ◽  
...  

Autosomal recessive diseases, such as cystic fibrosis (CF), require inheritance of 2 mutated genes. However, some studies indicate that CF carriers are at increased risk for some conditions associated with CF. These investigations focused on single conditions and included small numbers of subjects. Our goal was to determine whether CF carriers are at increased risk for a range of CF-related conditions. Using the Truven Health MarketScan Commercial Claims database (2001–2017), we performed a population-based retrospective matched-cohort study. We identified 19,802 CF carriers and matched each carrier with 5 controls. The prevalence of 59 CF-related diagnostic conditions was evaluated in each cohort. Odds ratios for each condition were computed for CF carriers relative to controls. All 59 CF-related conditions were more prevalent among carriers compared with controls, with significantly increased risk (P < 0.05) for 57 conditions. Risk was increased for some conditions previously linked to CF carriers (e.g., pancreatitis, male infertility, bronchiectasis), as well as some conditions not previously reported (e.g., diabetes, constipation, cholelithiasis, short stature, failure to thrive). We compared our results with 23,557 subjects with CF, who were also matched with controls; as the relative odds of a given condition increased among subjects with CF, so did the corresponding relative odds for carriers (P < 0.001). Although individual-level risk remained low for most conditions, because there are more than 10 million carriers in the US, population-level morbidity attributable to the CF carrier state is likely substantial. Genetic testing may inform prevention, diagnosis, and treatment for a broad range of CF carrier-related conditions.

2022 ◽  
Vol 15 ◽  
Author(s):  
Andrzej Z. Wasilczuk ◽  
Qing Cheng Meng ◽  
Andrew R. McKinstry-Wu

Previous studies have demonstrated that the brain has an intrinsic resistance to changes in arousal state. This resistance is most easily measured at the population level in the setting of general anesthesia and has been termed neural inertia. To date, no study has attempted to determine neural inertia in individuals. We hypothesize that individuals with markedly increased or decreased neural inertia might be at increased risk for complications related to state transitions, from awareness under anesthesia, to delayed emergence or confusion/impairment after emergence. Hence, an improved theoretical and practical understanding of neural inertia may have the potential to identify individuals at increased risk for these complications. This study was designed to explicitly measure neural inertia in individuals and empirically test the stochastic model of neural inertia using spectral analysis of the murine EEG. EEG was measured after induction of and emergence from isoflurane administered near the EC50 dose for loss of righting in genetically inbred mice on a timescale that minimizes pharmacokinetic confounds. Neural inertia was assessed by employing classifiers constructed using linear discriminant or supervised machine learning methods to determine if features of EEG spectra reliably demonstrate path dependence at steady-state anesthesia. We also report the existence of neural inertia at the individual level, as well as the population level, and that neural inertia decreases over time, providing direct empirical evidence supporting the predictions of the stochastic model of neural inertia.


ESC CardioMed ◽  
2018 ◽  
pp. 873-882
Author(s):  
Eva Prescott ◽  
Torben Jørgensen ◽  
Maja-Lisa Løchen ◽  
Jonathan Pearson-Stuttard ◽  
Simon Capewell

Great health benefits can be achieved if preventive efforts are focused on whole populations rather than mainly on high-risk individuals. Tobacco smoking, unhealthy diet, physical inactivity, alcohol abuse, and air pollution are responsible for a large proportion of global deaths and loss of disability-adjusted life years and there are documented effects of interventions at the population level on all of these factors. Population-based strategies include fiscal measures (i.e. taxation and subsidies), international, national, and regional policy regulations and legislation (e.g. smoke-free policies, rules for marketing, food production), and environmental changes (e.g. access to recreational areas, convenience stores), and have the advantages of addressing cardiovascular health over the entire life course, reducing health inequalities and saving costs when compared to individual-level interventions.


2019 ◽  
Vol 53 (11) ◽  
pp. 1102-1110 ◽  
Author(s):  
Siin Kim ◽  
Sang-Myung Cheon ◽  
Hae Sun Suh

Background: Although drug-induced parkinsonism is reversible in most cases, some patients can suffer from persistent/recurrent symptoms. Therefore, prevention is the most efficient way to manage drug-induced parkinsonism. However, there is a paucity of studies exploring the relationship between parkinsonism and drug exposure. Objective: To examine the association between drug exposure and the risk of parkinsonism using Korean population-based data. Methods: We conducted a matched case-control study using the National Health Insurance Service—National Sample Cohort database. Cases and controls were defined as individuals with and without parkinsonism, respectively, between 2007 and 2013. Cases and controls were matched for sex, age group, income, type of insurance, and Charlson comorbidity index. Drug exposures, including propulsives, antipsychotics, and flunarizine, were identified at 1 year before the first date of parkinsonism and stratified by recency and cumulative dose. Conditional logistic regression was used to estimate odds ratios (ORs) and 95% CIs. Results: We identified 5496 cases and 5496 controls. ORs for current use group of propulsives, antipsychotics, and flunarizine compared with those of the never use group were 2.812 (95% CI = 2.466-3.206), 3.009 (95% CI = 1.667-5.431), and 4.950 (95% CI = 2.711-9.037), respectively. ORs were greater in those more recently exposed and those exposed to higher cumulative doses. Conclusion and Relevance: At the population level, use of propulsives, antipsychotics, and flunarizine had a significant association with the increased risk of parkinsonism, depending on recency and cumulative dose. Drugs associated with parkinsonism should be used with careful monitoring to prevent drug-induced parkinsonism.


2020 ◽  
Vol 4 ◽  
pp. 71
Author(s):  
Fraser I Lewis ◽  
Godfrey Guga ◽  
Paschal Mdoe ◽  
Esto Mduma ◽  
Cloupas Mahopo ◽  
...  

Background: Growth trajectories are highly variable between children, making epidemiological analyses challenging both to the identification of malnutrition interventions at the population level and also risk assessment at individual level. We introduce stochastic differential equation (SDE) models into child growth research. SDEs describe flexible dynamic processes comprising: drift - gradual smooth changes – such as physiology or gut microbiome, and diffusion - sudden perturbations, such as illness or infection. Methods: We present a case study applying SDE models to child growth trajectory data from the Haydom, Tanzania and Venda, South Africa sites within the MAL-ED cohort. These data comprise n=460 children aged 0-24 months. A comparison with classical curve fitting (linear mixed models) is also presented. Results: The SDE models offered a wide range of new flexible shapes and parameterizations compared to classical additive models, with performance as good or better than standard approaches. The predictions from the SDE models suggest distinct longitudinal clusters that form distinct ‘streams’ hidden by the large between-child variability. Conclusions: Using SDE models to predict future growth trajectories revealed new insights in the observed data, where trajectories appear to cluster together in bands, which may have a future risk assessment application. SDEs offer an attractive approach for child growth modelling and potentially offer new insights.


2019 ◽  
Author(s):  
Sameer Desai

Background: Life satisfaction is considered a valid population-based indicator of health and well-being. Recently, many advances in life satisfaction and well-being have been made by improving social and health policies. However, several countries continue to report low levels of life satisfaction, even among many modern industrialized nations. The purpose of this study was to investigate the impact of private religious or spiritual activities (PRS) as a possible modifiable, individual-level factor to increase life satisfaction, with population-level health implications.Methods: The analytic sample included 9,627 respondents to the 2011-2012 Canadian Community Health Survey. Multinomial logistic regression analysis was conducted to examine the relationship between self-reported PRS activities and life satisfaction, adjusted for confounders.Results: After adjusting for the confounders, daily PRS activities was associated with an increased odds of high satisfaction (AOR=1.22, 95% CI: 0.84, 1.78) compared to low satisfaction. Engaging in weekly PRS activities was also associated with an increased odds of high satisfaction (AOR = AOR=1.33, 95% CI: 0.87, 2.02) compared to low satisfaction. Monthly engagement in PRS activities was not associated with increases in life satisfaction. Conclusions: There is a moderate association between the odds of high satisfaction and engaging in PRS activities on a daily or weekly basis. The variability in the CIs of the AORs indicates imprecision in the data; however, the majority of the possible range of effects are beneficial. Countries and other relevant organizations should be cognizant of the possible role that religious and spiritual values may have on life satisfaction, as another factor to explore further for population-level health benefits.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sunyoung Kang ◽  
Minkyung Han ◽  
Chun Il Park ◽  
Inkyung Jung ◽  
Eun Hwa Kim ◽  
...  

AbstractThis study examined whether the use of SRIs is associated with an increased risk of bone loss using a nested case–control design with a nationwide population–based cohort in Korea. Using the Korean National Health Screening Cohort, subjects newly diagnosed with osteoporosis or osteopenia (n = 55,799) were matched with controls (n = 278,995) at a ratio of 1:5. We stratified the participants by their time-dependent use of SRIs and sex and controlled for various confounders, including lifestyle habits, laboratory data, and comorbidities. Conditional logistic regression showed that both recent and former users of SRIs had an increased risk of subsequent bone loss compared with non-users: men [recent users: odds ratio (OR) 1.35, 95% confidential interval (CI) 1.20, 1.53; former-users: OR 1.10, 95% CI 1.01, 1.20]; women (recent users: OR 1.38, 95% CI 1.28–1.48; former-users: OR 1.07, 95% CI 1.02, 1.21). The use of SRIs was associated with an increased risk of bone loss in both men and women. In particular, the association was stronger in recent users. These findings provide population-level evidence for the risk of bone loss associated with SRI exposure and highlight the importance of monitoring the bone health of SRI users.


Author(s):  
Klas Ove MÖller ◽  
Michael St. John ◽  
Axel Temming ◽  
Rabea Diekmann ◽  
Janna Peters ◽  
...  

Abstract Predators not only have direct impact on biomass but also indirect, non-consumptive effects on the behavior their prey organisms. A characteristic response of zooplankton in aquatic ecosystems is predator avoidance by diel vertical migration (DVM), a behavior which is well studied on the population level. A wide range of behavioral diversity and plasticity has been observed both between- as well as within-species and, hence, investigating predator–prey interactions at the individual level seems therefore essential for a better understanding of zooplankton dynamics. Here we applied an underwater imaging instrument, the video plankton recorder (VPR), which allows the non-invasive investigation of individual, diel adaptive behavior of zooplankton in response to predators in the natural oceanic environment, providing a finely resolved and continuous documentation of the organisms’ vertical distribution. Combing observations of copepod individuals observed with the VPR and hydroacoustic estimates of predatory fish biomass, we here show (i) a small-scale DVM of ovigerous Pseudocalanus acuspes females in response to its main predators, (ii) in-situ observations of a direct short-term reaction of the prey to the arrival of the predator and (iii) in-situ evidence of pronounced individual variation in this adaptive behavior with potentially strong effects on individual performance and ecosystem functioning.


Author(s):  
Amanda Marchant ◽  
Samantha Turner ◽  
Lloyd Balbuena ◽  
Evyn Peters ◽  
Dave Williams ◽  
...  

BackgroundAccurate data on self-harm is crucial to suicide prevention efforts. It has been previously found that around twice as many people who self-harm seek help in primary care than in secondary care. Little is known about how contacts for self-harm differ across settings at a population level. This study utilised individual-level linked data across GP, Emergency Departments (ED), outpatients and hospital admissions examining contacts across settings and time by sex for self-harm in 10-24 year olds. MethodsA whole-population based e-cohort study of routinely collected healthcare data was conducted. Rates of self-harm across settings over time by sex were examined. Individuals were categorised based on the service(s) to which they presented. ResultsA total of 937,697 individuals aged 10-24 years contributed 5,369,794 person years of data from the 01.01.2003-30.09.2015. There were differences in self-harm contacts by demographic variables particularly with regards to sex and admissions to hospital following ED attendance. ConclusionThis is the first study to compare self-harm in people aged 10-24 years across primary care, EDs, and hospital settings in the UK. The high rates of self-harm in primary care and for young men in EDs highlight these as important settings for intervention. Understanding patterns of presentation will inform service planning and configuration for follow-up care and could inform tailored support, for example for males in ED. Linked data provides important evidence to support the development of interventions across healthcare settings.


2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 228s-228s
Author(s):  
K. Henson ◽  
R. Brock ◽  
J. Charnock ◽  
B. Wickramasinghe ◽  
O. Will ◽  
...  

Background: Previous research has identified an increased risk of suicide among cancer patients, however this has not been investigated at a population level in England. Those subgroups of patients most at risk need to be identified to ensure appropriate access to psychological support. Aim: To examine the variation in suicide risk among individuals diagnosed with cancer in England. Methods: We identified 4,453,547 individuals (21 million person-years at risk) aged 18 to 99 years at diagnosis of cancer during 1995 to 2015 from the national cancer registry, and followed them up until 31 August 2017. The outcomes of interest were both suicide and open verdicts (ICD-10 X60-X84, Y87.0, Y10-Y34 [excluding Y33.9, Y87.2]). Population-based expected deaths were as published by ONS [2]. We calculated standardized mortality ratios (SMRs) and absolute excess risks (AERs), and explored variation in suicide risk by cancer type, age at death, sex, deprivation, ethnicity, and years since cancer diagnosis. Results: 2352 cancer patients died by suicide. This was 0.08% of all deaths. The overall SMR for suicide was 1.19 (95% CI 1.14-1.24) and AER per 10,000 person-years was 0.18 (0.13-0.22). The risk was highest among individuals diagnosed with mesothelioma, with a 4.34-fold risk corresponding to 4.00 extra deaths per 10,000 person-years. This was followed by pancreatic (3.94-fold), esophageal (2.53-fold), lung (2.52-fold), and stomach (2.14-fold) cancer (all significantly elevated). Suicide risk was highest in the first 6 months following cancer diagnosis (SMR: 2.64 [2.42-2.89]), but a significantly increased risk persisted for 2 years (SMR: 1.21 [1.08-1.35]). Conclusion: Despite low numbers, the elevated risk of suicide in patients with certain cancers is a concern, representing potentially preventable deaths. The increased risk in the first 6 months after diagnosis, which is consistent with previous studies, highlights unmet needs for psychological support delivered alongside cancer diagnosis and treatment. Our findings suggest a need for improved risk stratification across cancer services, followed by targeted psychological support.


2020 ◽  
Vol 4 ◽  
pp. 71
Author(s):  
Fraser I Lewis ◽  
Godfrey Guga ◽  
Paschal Mdoe ◽  
Esto Mduma ◽  
Cloupas Mahopo ◽  
...  

Background: Growth trajectories are highly variable between children, making epidemiological analyses challenging both to the identification of malnutrition interventions at the population level and also risk assessment at individual level. We introduce stochastic differential equation (SDE) models into child growth research. SDEs describe flexible dynamic processes comprising: drift - gradual smooth changes – such as physiology or gut microbiome, and diffusion - sudden perturbations, such as illness or infection. Methods: We present a case study applying SDE models to child growth trajectory data from the Haydom, Tanzania and Venda, South Africa sites within the MAL-ED cohort. These data comprise n=460 children aged 0-24 months. A comparison with classical curve fitting (linear mixed models) is also presented. Results: The SDE models offered a wide range of new flexible shapes and parameterizations compared to classical additive models, with performance as good or better than standard approaches. The predictions from the SDE models suggest distinct longitudinal clusters that form distinct ‘streams’ hidden by the large between-child variability. Conclusions: Using SDE models to predict future growth trajectories revealed new insights in the observed data, where trajectories appear to cluster together in bands, which may have a future risk assessment application. SDEs offer an attractive approach for child growth modelling and potentially offer new insights.


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