Evaluation of orphan diseases global burden.
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ABSTRACT:
SUBMITTER: Makarova EV
PROVIDER: S-EPMC8274220 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Reliable, comparable information about the main causes of disease and injury in populations, and how these are changing, is a critical input for debates about priorities in the health sector. Traditional sources of information about the descriptive epidemiology of diseases, injuries, and risk factors are generally incomplete, fragmented, and of uncertain reliability and comparability. The Global Burden of Disease (GBD) study has provided a conceptual and methodological framework to quantify and compare the health of populations using a summary measure of both mortality and disability, the disability-adjusted life year (DALY).This paper describes key features of the Global Burden of Disease analytic approach, which provides a standardized measurement framework to permit comparisons across diseases and injuries, as well as risk factors, and a systematic approach to the evaluation of data. The paper describes the evolution of the GBD, starting from the first study for the year 1990, summarizes the methodological improvements incorporated into GBD revisions for the years 2000-2004 carried out by the World Health Organization, and examines priorities and issues for the next major GBD study, funded by the Bill & Melinda Gates Foundation, and commencing in 2007.The paper presents an overview of summary results from the Global Burden of Disease study 2002, with a particular focus on the neglected tropical diseases, and also an overview of the comparative risk assessment for 26 global risk factors. Taken together, trypanosomiasis, Chagas disease, schistosomiasis, leishmaniasis, lymphatic filariasis, onchocerciasis, intestinal nematode infections, Japanese encephalitis, dengue, and leprosy accounted for an estimated 177,000 deaths worldwide in 2002, mostly in sub-Saharan Africa, and about 20 million DALYs, or 1.3% of the global burden of disease and injuries. Further research is currently underway to revise and update these estimates.
| S-EPMC2100367 | biostudies-literature
Project description:According to global annual estimates hunger/malnutrition is the major cause of death (36 of 62 million). Cardiovascular diseases and cancer (5.44 of 13.43 million) are the major causes of death in developed countries, while lower respiratory tract infections, human immunodeficiency virus infection/acquired immunodeficiency syndrome, diarrhoeal disease, malaria and tuberculosis (10.88 of 27.12 million) are the major causes of death in developing countries with more than 70% of deaths occurring in children. The majority of approximately 800 million people with other rare diseases, including 100000 children born with thalassaemia annually receive no treatment. There are major ethical dilemmas in dealing with global health issues such as poverty and the treatment of orphan and rare diseases. Of approximately 50000 drugs about 10% are orphan drugs, with annual sales of the latter approaching 100 billion USD. In comparison, the annual revenue in 2009 from the top 12 pharmaceutical companies in Western countries was 445 billion USD and the top drug, atorvastatin, reached 100 billion USD. In the same year, the total government expenditure for health in the developing countries was 410 billion USD with only 6%-7% having been received as aid from developed countries. Drugs cost the National Health Service in the United Kingdom more than 20 billion USD or 10% of the annual health budget. Uncontrollable drug prices and marketing policies affect global health budgets, clinical practice, patient safety and survival. Fines of 5.3 billion USD were imposed on two pharmaceutical companies in the United States, the regulatory authority in France was replaced and clinicians were charged with bribery in order to overcome recent illegal practises affecting patient care. High expenditure for drug development is mainly related to marketing costs. However, only 2 million USD was spent developing the drug deferiprone (L1) for thalassaemia up to the stage of multicentre clinical trials. The criteria for drug development, price levels and use needs to be readdressed to improve drug safety and minimise costs. New global health policies based on cheaper drugs can help the treatment of many categories of orphan and rare diseases and millions of orphan patients in developing and developed countries.
| S-EPMC4202455 | biostudies-literature
Project description:Infectious diseases of poverty (IDoP) disproportionately affect the poorest population in the world and contribute to a cycle of poverty as a result of decreased productivity ensuing from long-term illness, disability, and social stigma. In 2010, the global deaths from HIV/AIDS have increased to 1.5 million and malaria mortality rose to 1.17 million. Mortality from neglected tropical diseases rose to 152,000, while tuberculosis killed 1.2 million people that same year. Substantial regional variations exist in the distribution of these diseases as they are primarily concentrated in rural areas of Sub-Saharan Africa, Asia, and Latin America, with geographic overlap and high levels of co-infection. Evidence-based interventions exist to prevent and control these diseases, however, the coverage still remains low with an emerging challenge of antimicrobial resistance. Therefore, community-based delivery platforms are increasingly being advocated to ensure sustainability and combat co-infections. Because of the high morbidity and mortality burden of these diseases, especially in resource-poor settings, it is imperative to conduct a systematic review to identify strategies to prevent and control these diseases. Therefore, we attempted to evaluate the effectiveness of one of these strategies, that is community-based delivery for the prevention and treatment of IDoP. In this paper, we describe the burden, epidemiology, and potential interventions for IDoP. In subsequent papers of this series, we describe the analytical framework and the methodology used to guide the systematic reviews, and report the findings and interpretations of our analyses of the impact of community-based strategies on individual IDoPs.
| S-EPMC4126350 | biostudies-literature
Project description:Background: Exposure to ambient particulate matter pollution (APMP) is a global health issue that directly affects the human respiratory system. Thus, we estimated the spatiotemporal trends in the burden of APMP-related respiratory diseases from 1990 to 2019. Methods: Based on the Global Burden of Disease Study 2019, data on the burden of APMP-related respiratory diseases were analyzed by age, sex, cause, and location. Joinpoint regression analysis was used to analyze the temporal trends in the burden of different respiratory diseases over the 30 years. Results: Globally, in 2019, APMP contributed the most to chronic obstructive pulmonary disease (COPD), with 695.1 thousand deaths and 15.4 million disability-adjusted life years (DALYs); however, the corresponding age-standardized death and DALY rates declined from 1990 to 2019. Similarly, although age-standardized death and DALY rates since 1990 decreased by 24% and 40%, respectively, lower respiratory infections (LRIs) still had the second highest number of deaths and DALYs attributable to APMP. This was followed by tracheal, bronchus, and lung (TBL) cancer, which showed increased age-standardized death and DALY rates during the past 30 years and reached 3.78 deaths per 100,000 persons and 84.22 DALYs per 100,000 persons in 2019. Among children aged < 5 years, LRIs had a huge burden attributable to APMP, whereas for older people, COPD was the leading cause of death and DALYs attributable to APMP. The APMP-related burdens of LRIs and COPD were relatively higher among countries with low and low-middle socio-demographic index (SDI), while countries with high-middle SDI showed the highest burden of TBL cancer attributable to APMP. Conclusions: APMP contributed substantially to the global burden of respiratory diseases, posing a significant threat to human health. Effective actions aimed at air pollution can potentially avoid an increase in the PM2.5-associated disease burden, especially in highly polluted areas.
| S-EPMC8650086 | biostudies-literature
Project description:BackgroundUnderstanding how prevalence, incidence, and mortality of motor neuron diseases change over time and by location is crucial for understanding the causes of these disorders and for health-care planning. Our aim was to produce estimates of incidence, prevalence, and disability-adjusted life-years (DALYs) for motor neuron diseases for 195 countries and territories from 1990 to 2016 as part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016.MethodsThe motor neuron diseases included in this study were amyotrophic lateral sclerosis, spinal muscular atrophy, hereditary spastic paraplegia, primary lateral sclerosis, progressive muscular atrophy, and pseudobulbar palsy. Incidence, prevalence, and DALYs were estimated using a Bayesian meta-regression model. We analysed 14 165 site-years of vital registration cause of death data using the GBD 2016 cause of death ensemble model. The 84 risk factors quantified in GBD 2016 were tested for an association with incidence or death from motor neuron diseases. We also explored the relationship between Socio-demographic Index (SDI; a compound measure of income per capita, education, and fertility) and age-standardised DALYs of motor neuron diseases.FindingsIn 2016, globally, 330 918 (95% uncertainty interval [UI] 299 522-367 254) individuals had a motor neuron disease. Motor neuron diseases have caused 926 090 (881 566-961 758) DALYs and 34 325 (33 051-35 364) deaths in 2016. The worldwide all-age prevalence was 4·5 (4·1-5·0) per 100 000 people, with an increase in age-standardised prevalence of 4·5% (3·4-5·7) over the study period. The all-age incidence was 0·78 (95% UI 0·71-0·86) per 100 000 person-years. No risk factor analysed in GBD showed an association with motor neuron disease incidence. The largest age-standardised prevalence was in high SDI regions: high-income North America (16·8, 95% UI 15·8-16·9), Australasia (14·7, 13·5-16·1), and western Europe (12·9, 11·7-14·1). However, the prevalence and incidence were lower than expected based on SDI in high-income Asia Pacific.InterpretationMotor neuron diseases have low prevalence and incidence, but cause severe disability with a high fatality rate. Incidence of motor neuron diseases has geographical heterogeneity, which is not explained by any risk factors quantified in GBD, suggesting other unmeasured risk factors might have a role. Between 1990 and 2016, the burden of motor neuron diseases has increased substantially. The estimates presented here, as well as future estimates based on data from a greater number of countries, will be important in the planning of services for people with motor neuron diseases worldwide.FundingBill & Melinda Gates Foundation.
| S-EPMC6234315 | biostudies-literature
Project description:BackgroundAlthough a preventable and treatable disease, tuberculosis causes more than a million deaths each year. As countries work towards achieving the Sustainable Development Goal (SDG) target to end the tuberculosis epidemic by 2030, robust assessments of the levels and trends of the burden of tuberculosis are crucial to inform policy and programme decision making. We assessed the levels and trends in the fatal and non-fatal burden of tuberculosis by drug resistance and HIV status for 195 countries and territories from 1990 to 2016.MethodsWe analysed 15 943 site-years of vital registration data, 1710 site-years of verbal autopsy data, 764 site-years of sample-based vital registration data, and 361 site-years of mortality surveillance data to estimate mortality due to tuberculosis using the Cause of Death Ensemble model. We analysed all available data sources, including annual case notifications, prevalence surveys, population-based tuberculin surveys, and estimated tuberculosis cause-specific mortality to generate internally consistent estimates of incidence, prevalence, and mortality using DisMod-MR 2.1, a Bayesian meta-regression tool. We assessed how the burden of tuberculosis differed from the burden predicted by the Socio-demographic Index (SDI), a composite indicator of income per capita, average years of schooling, and total fertility rate.FindingsGlobally in 2016, among HIV-negative individuals, the number of incident cases of tuberculosis was 9·02 million (95% uncertainty interval [UI] 8·05-10·16) and the number of tuberculosis deaths was 1·21 million (1·16-1·27). Among HIV-positive individuals, the number of incident cases was 1·40 million (1·01-1·89) and the number of tuberculosis deaths was 0·24 million (0·16-0·31). Globally, among HIV-negative individuals the age-standardised incidence of tuberculosis decreased annually at a slower rate (-1·3% [-1·5 to -1·2]) than mortality did (-4·5% [-5·0 to -4·1]) from 2006 to 2016. Among HIV-positive individuals during the same period, the rate of change in annualised age-standardised incidence was -4·0% (-4·5 to -3·7) and mortality was -8·9% (-9·5 to -8·4). Several regions had higher rates of age-standardised incidence and mortality than expected on the basis of their SDI levels in 2016. For drug-susceptible tuberculosis, the highest observed-to-expected ratios were in southern sub-Saharan Africa (13·7 for incidence and 14·9 for mortality), and the lowest ratios were in high-income North America (0·4 for incidence) and Oceania (0·3 for mortality). For multidrug-resistant tuberculosis, eastern Europe had the highest observed-to-expected ratios (67·3 for incidence and 73·0 for mortality), and high-income North America had the lowest ratios (0·4 for incidence and 0·5 for mortality).InterpretationIf current trends in tuberculosis incidence continue, few countries are likely to meet the SDG target to end the tuberculosis epidemic by 2030. Progress needs to be accelerated by improving the quality of and access to tuberculosis diagnosis and care, by developing new tools, scaling up interventions to prevent risk factors for tuberculosis, and integrating control programmes for tuberculosis and HIV.FundingBill & Melinda Gates Foundation.
| S-EPMC6250050 | biostudies-literature
Project description:Cardiovascular diseases (CVDs) have emerged as the leading cause of deaths worldwide in 2019. Globally, more than three-quarters of the total deaths due to CVDs occur in low- and middle-income countries like Nepal. Although increasing number of studies is available on the prevalence of CVDs, there is limited evidence presenting a complete picture on the burden of CVDs in Nepal. In this context, this study aims to provide comprehensive picture on the burden of CVDs in the country. This study is based on the Global Burden of Disease (GBD) study 2019, which is a multinational collaborative research covering 204 countries and territories across the world. The estimations made from the study are publicly available in the GBD Compare webpage operated by the Institute for Health Metrics and Evaluation (IHME), University of Washington. This article makes use of those data available on the GBD Compare page of IHME website to present the comprehensive picture of the burden of CVDs in Nepal. Overall, in 2019, there were an estimated 1,214,607 cases, 46,501 deaths, and 1,104,474 disability-adjusted life years (DALYs) due to CVDs in Nepal. The age-standardized mortality rates for CVDs witnessed a marginal reduction from 267.60 per 100,000 population in 1990 to 245.38 per 100,000 population in 2019. The proportion of deaths and DALYs attributable to CVDs increased from 9.77% to 24.04% and from 4.82% to 11.89%, respectively, between 1990 and 2019. Even though there are relatively stable rates of age-standardized prevalence, and mortality, the proportion of deaths and DALYs attributed to CVDs have risen sharply between 1990 and 2019. Besides implementing the preventive measures, the health system also needs to prepare itself for the delivery of long-term care of patients with CVDs which could have significant implications on resources and operations.
| S-EPMC10292936 | biostudies-literature
Project description:ImportanceCardiovascular disease (CVD) remains the top cause of death in China. To our knowledge, no consistent and comparable assessments of CVD burden have been produced at subnational levels, and little is understood about the spatial patterns and temporal trends of CVD in China.ObjectiveTo determine the national and province-level burden of CVD from 1990 to 2016 in China.Design, setting, and participantsFollowing the methodology framework and analytical strategies used in the 2016 Global Burden of Disease study, the mortality, prevalence, and disability-adjusted life-years (DALYs) of CVD in the Chinese population were examined by age, sex, and year and according to 10 subcategories. Estimates were produced for all province-level administrative units of mainland China, Hong Kong, and Macao.ExposuresResidence in China.Main outcomes and measuresMortality, prevalence, and DALYs of CVD.ResultsThe annual number of deaths owing to CVD increased from 2.51 million to 3.97 million between 1990 and 2016; the age-standardized mortality rate fell by 28.7%, from 431.6 per 100 000 persons in 1990 to 307.9 per 100 000 in 2016. Prevalent cases of CVD doubled since 1990, reaching nearly 94 million in 2016. The age-standardized prevalence rate of CVD overall increased significantly from 1990 to 2016 by 14.7%, as did rates for ischemic heart disease (19.1%), ischemic stroke (36.6%), cardiomyopathy and myocarditis (23.1%), and endocarditis (26.7%). Substantial reduction in the CVD burden, as measured by age-standardized DALY rate, was observed from 1990 to 2016 nationally, with a greater reduction in women (43.7%) than men (24.7%). There were marked differences in the spatial patterns of mortality, prevalence, and DALYs of CVD overall as well as its main subcategories, including ischemic heart disease, hemorrhagic stroke, and ischemic stroke. The CVD burden appeared to be lower in coastal provinces with higher economic development. The between-province gap in relative burden of CVD increased from 1990 to 2016, with faster decline in economically developed provinces.Conclusions and relevanceSubstantial discrepancies in the total CVD burden and burdens of CVD subcategories have persisted between provinces in China despite a relative decrease in the CVD burden. Geographically targeted considerations are needed to tailor future strategies to enhance CVD health throughout China and in specific provinces.
| S-EPMC6484795 | biostudies-literature
Project description:BackgroundExamining the distribution of the burden of different communicable and non-communicable diseases and injuries worldwide can present proper evidence to global policymakers to deal with health inequality. The present study aimed to determine socioeconomic inequality in the burden of 25 groups of diseases between countries around the world in 2019.MethodsIn the current study data according to 204 countries in the world was gathered from the Human Development Report and the Global Burden of Diseases study. Variables referring to incidence, prevalence, years of life lost (YLL), years lived with disability (YLD) and disability adjusted life years (DALY) resulting by 25 groups of diseases and injuries also human development index was applied for the analysis. For measurement of socioeconomic inequality, concentration index (CI) and curve was applied. CI is considered as one of the popular measures for inequality measurement. It ranges from - 1 to + 1. A positive value implies that a variable is concentrated among the higher socioeconomic status population and vice versa.ResultsThe findings showed that CI of the incidence, prevalence, YLL, YLD and DALY for all causes were - 0.0255, - 0.0035, - 0.1773, 0.0718 and - 0.0973, respectively. CI for total Communicable, Maternal, Neonatal, and Nutritional Diseases (CMNNDs) incidence, prevalence, YLL, YLD and DALY were estimated as - 0.0495, - 0.1355, - 0.5585, - 0.2801 and - 0.5203, respectively. Moreover, estimates indicated that CIs of incidence, prevalence, YLL, YLD and DALY for Non-Communicable Diseases (NCDs) were 0.1488, 0.1218, 0.1552, 0.1847 and 0.1669, respectively. Regarding injuries, the CIs of incidence, prevalence, YLL, YLD and DALY were determined as 0.0212, 0.1364, - 0.1605, 0.1146 and 0.3316, respectively. In the CMNNDs group, highest and lowest CI of DALY were related to the respiratory infections and tuberculosis (- 0.4291) and neglected tropical diseases and malaria (- 0.6872). Regarding NCDs, the highest and lowest CI for DALY is determined for neoplasms (0.3192) and other NCDs (- 0.0784). Moreover, the maximum and minimum of CI of DALY for injuries group were related to the transport injuries (0.0421) and unintentional injuries (- 0.0297).ConclusionsThe distribution of all-causes and CMNNDs burden were more concentrated in low-HDI countries and there are pro-poor inequality. However, there is a pro-rich inequality for NCDs' burden i.e. it was concentrated in high-HDI countries. On the other hand, the concentration of DALY, YLD, prevalence, and incidence in injuries was observed in the countries with higher HDI, while YLL was concentrated in low-HDI countries.
| S-EPMC8480106 | biostudies-literature
Project description:This article investigates alcohol consumption attributable burden of diseases. The present study considers the overall effect of Human Development Index (HDI), Socio Demographic Index (SDI) and Gross Domestic Product (GDP) for income to measure how these variables impact Global Burden of Diseases (GDB), bringing a different perspective to the results. Data from over 177 countries mainly including European, Asian, North American, South American, African and Australian regions were analysed from 2000 to 2019. A Panel regression technique was applied, and Fixed Effects (FE) and Random Effects (RE) estimations were chosen to derive outcomes of the Hausman test. The findings reflected that alcohol consumption (wine, beer, spirit and other alcohol) has a positive significant relationship with the Global Burden of Diseases (GBD) globally and in the African continent excluding North America and South America. Human Development Index (HDI) have a negative impact on GBD on all countries. Particularly HDI have a negative impact on GBD in African continent except other continents. Also, in the African continent and globally, GBD has a significant positive and in Europe, a significant negative impact on the Socio Demographic Index (SDI). The findings demonstrate the overall picture of the impact of alcohol consumption and other variables on GBD and provide suggestions on how these variables should be tackled in the future to reduce GBD. This is the initial empirical study that investigates the impact of alcohol consumption, analysing the combined effect of HDI, SDI and income on the GBD of continent wise and globally.
| S-EPMC9333294 | biostudies-literature