RESUMO
BACKGROUND: Toxic oil syndrome (TOS) is a multisystemic disease due to a massive intoxication. To evaluate physical and mental health of TOS patients, we used the Health Assessment Questionnaire (HAQ) and the Patient Health Questionnaire-9 (PHQ-9). Additionally, we correlated both questionnaires with the results of the Short Form-36v2 (SF-36v2) Health Survey obtained in the same patients' sample. METHODS: 895 TOS patients who participated in the prior SF-36v2 study were invited to participate. We described patients' demographic and clinical characteristics, HAQ and PHQ-9 results. HAQ and PHQ-9 scores were correlated to the standardised SF-36v2 results obtained in our previous study. RESULTS: In total, 828 (92.5%) TOS annual follow-up and HAQ and 810 (90.5%) PHQ-9 valid questionnaires were analysed. Participants' average age was 65.4 (Standard Deviation (SD): 13.4), 521 (62.9%) were women, 725 (87.6%) reported having at least other chronic disease and 789 (95.3%) an additional TOS-related health problem. Average scores were 0.91 (SD: 0.83) for HAQ, 35.8 (SD: 10.1) for PCS and 37.8 (SD: 11.6) for MCS. Overall, 467 (57.7%) participants had moderate/severe depression (PHQ-9 ≥ 10), but only 229 (49.6%) of them reported having a depression diagnosis. Correlation between questionnaires was very strong for HAQ and physical function SF-36v2 dimension and moderate/fair for the rest of combinations. CONCLUSIONS: TOS cohort presented low/very low health status measured with SF-36v2, moderate difficulties in performing daily activities according to HAQ, and a high prevalence of major depression measured with PHQ-9. High proportion of undiagnosed depression was detected, proving PHQ-9 useful in terms of detecting and promoting depression diagnosis in the cohort.
Assuntos
Saúde Mental , Questionário de Saúde do Paciente , Idoso , Feminino , Humanos , Masculino , Nível de Saúde , Qualidade de Vida/psicologia , Inquéritos e QuestionáriosRESUMO
Official mortality statistics provide population-based data and serve to improve epidemiological knowledge of rare diseases (RDs), by helping with the description of the natural history of the disease. They are an important complement of registries and estimates of disease burden and costs. At the same time, they heighten both the visibility of these diseases and the interest in their study and the search for treatments that may increase survival. This chapter contains a European analysis of hereditary ataxia mortality, which considers the time trend in different countries and the geographical variability in risk of death. Despite the limitations of applying this data source to RDs, mortality statistics share criteria which facilitate international comparisons and are of great utility for obtaining sufficiently uniform and robust time series for analysis of low-prevalence diseases.
Assuntos
Doenças Raras/mortalidade , Degenerações Espinocerebelares/mortalidade , Distribuição por Idade , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Prognóstico , Saúde Pública , Doenças Raras/diagnóstico , Doenças Raras/terapia , Sistema de Registros , Medição de Risco , Fatores de Risco , Distribuição por Sexo , Degenerações Espinocerebelares/diagnóstico , Degenerações Espinocerebelares/terapia , Fatores de TempoRESUMO
BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. METHODS: HD data were extracted from the nationwide mortality registry for the period 1984-2013. Annual and 5-year gender- and age-specific rates adjusted for the standard European population were calculated. Geographic analysis was performed by districts from 1999 through 2013, and then estimated standardized mortality ratios (SMRs) and smoothed SMRs. RESULTS: There were 1,556 HD-related deaths across the study period. An increasing trend in age-adjusted HD mortality was in evidence, specifically from 1994 through 1998. On a year-by-year basis, age-adjusted mortality rates increased from 0.076 per 100,000 population in 1984 to 0.157 in 2013. Geographical differences among districts were evident in specific areas and in the southwest of Spain with a significantly higher HD mortality risk. CONCLUSION: HD mortality rising trends in Spain might be attributable to improvements in diagnosis leading to a rise in prevalence. Geographical variability in HD mortality could be related to regional differences in disease prevalence, health-care disparities, or other factors which call for in-depth assessment in future studies.
Assuntos
Doença de Huntington/mortalidade , Fatores Etários , Feminino , Geografia , Humanos , Masculino , Sistema de Registros , Fatores Sexuais , Espanha , Fatores de TempoRESUMO
Osteochondrodysplasias are a heterogeneous group of more than 200 entities, characterized by abnormalities of cartilage, bone growth, and skeletal development. The aim of this study was to assess temporal and spatial changes in overall mortality due to these disorders in Spain, using data from a nationwide registry. Annual deaths showing osteochondrodysplasias as the underlying cause of death were selected using the International Classification of Diseases-9th revision (ICD-9) codes for the period 1981 through 1998, and ICD-10 codes for the period 1999 through 2008. Age-adjusted mortality rates were calculated by sex, and geographic analysis was performed by municipality. A total of 679 deaths were recorded (53% men). Age-adjusted mortality rates went from 0.09 (0.06, 0.12) per 100,000 population in 1981 to 0.05 (0.03, 0.08) per 100,000 population in 2008. A changing trend in the age-standardized mortality rate was in evidence, with an annual increase of 2.4% (-0.4, 5.2) from 1981 to 1994, and an annual decrease of -7.3% (-10.9, -3.5) from 1995 onwards. Geographic analysis showed some places situated in the west and south of Spain with greater risk of mortality. There is a need to identify risk factors and to increase overall knowledge about the life expectancy and epidemiology of osteochondrodysplasias.
Assuntos
Osteocondrodisplasias/mortalidade , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Sistema de Registros , Espanha/epidemiologiaRESUMO
BACKGROUND: Hereditary ataxias (HA) comprise a group of genetically heterogeneous rare diseases. As important public health problems to be monitored, this study analyses the morbimortality of HA in Spain. METHODS: Data were extracted from the national death index (1981-2008), using the International Classification of Diseases (ICD) 9th revision code 334 until 1998, and 10th revision code G11 from 1999 onwards. ICD-9 codes were then selected from the national discharge dataset (1998-2007). Age-adjusted morbidity and mortality rates were obtained by gender and 5-year period. RESULTS: Of the 610 HA deaths from 1981 to 2008, 277 corresponded to Friedreich's ataxia (45.4%) and 333 (54.6%) to other and unspecified ataxias (non-Friedreich group). Both groups showed an increase in mortality trend, which was more pronounced in males from 1985-1989 to 1990-1994. Geographical distribution of mortality revealed higher risk for males, mainly in the north of Spain. A total of 5,341 HA hospitalisations were identified from 1998 to 2007. The average annual age-adjusted hospitalisation rate was 1.19 per 100,000 population, with a rising trend. CONCLUSION: This increase in morbidity and mortality, coupled with the slight interprovincial differences, indicate that more attention should be paid to these rare diseases by public authorities and society alike.
Assuntos
Alta do Paciente/estatística & dados numéricos , Degenerações Espinocerebelares/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Causas de Morte , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Classificação Internacional de Doenças , Masculino , Pessoa de Meia-Idade , Prevalência , Sistema de Registros , Espanha/epidemiologia , Degenerações Espinocerebelares/mortalidadeRESUMO
Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution of hospitalizations in Spain from 2008 to 2015. We identified hospitalizations of FMF from the Spanish Minimum Basic Data Set at hospital discharge, using ICD-9-CM code 277.31. Age-specific and age-adjusted hospitalization rates were calculated. The time trend and the average percentage change were analyzed using Joinpoint regression. Standardized morbidity ratios were calculated and mapped by province. A total of 960 FMF-related hospitalizations (52% men) were identified across the period 2008-2015, with an increase in hospitalizations of 4.9% per year being detected (p < 0.05). The risk of hospitalization was higher than expected for the national total (SMR > 1) in 13 provinces (5 in the Mediterranean area), and lower (SMR < 1) in 14 provinces (3 in the Mediterranean area). There was an increase in hospitalizations of patients with FMF in Spain throughout the study period, with a risk of hospitalization that was higher, though not exclusively so, in provinces along the Mediterranean coast. These findings contribute to the visibility of FMF and provide useful information for health planning. Further research should take into account new population-based information, in order to continue monitoring this disease.
Assuntos
Febre Familiar do Mediterrâneo , Masculino , Humanos , Feminino , Espanha , HospitalizaçãoRESUMO
BACKGROUND: Toxic oil syndrome (TOS) is a multisystemic disease due to a massive intoxication that occurred in Spain in 1981 affecting >20 000 persons. This study aims to evaluate the quality of life of the survivors' cohort after 38 years of follow-up using the Short Form 36 (SF-36) Health Survey. METHODS: One thousand patients were selected among the 14 084 alive TOS cohort members in 2018 using a stratified random sampling method. Stratification was performed by the 2017 self-rated health status reported by patients. SF-36 results were compared directly and as standardized (T scores) with the Spanish-population reference values. Relationship between self-rated health status and SF-36 results was assessed. RESULTS: Overall, 900 cohort members participated and 895 valid responses were included in the study. Participants' average age was 65.2 (standard deviation: 13.8) years and 563 (62.9%) participants were women. Participants' distribution by self-rated health status was: 219 (24.5%) good/very good, 415 (46.4%) fair and 261 (29.1%) poor/very poor. Quality of life was below the Spanish-population reference in 84% of the TOS patients (87.2% for women and 78.6% for men) for the Physical Component Summary (PCS) and in 75.4% (81.7% for women and 64.8% for men) for the Mental Component Summary (MCS). PCS and MCS scores decreased similarly for both sexes with worse self-rated health. CONCLUSIONS: Very low quality of life and self-rated health, especially for women, were found in the total TOS participants that can be extrapolated to the TOS survivors' cohort. The TOS cohort still requires standardization of care with integral plans around the country.
Assuntos
Nível de Saúde , Qualidade de Vida , Idoso , Estudos de Coortes , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Inquéritos e QuestionáriosRESUMO
Muscular dystrophies (MD) are a group of rare hereditary degenerative diseases. Our aim was to analyze the mortality pattern in Spain from 1981 to 2016 to assess the temporal trend and discern possible geographic differences using population-based data. Annual deaths related to MD were obtained from the National Statistics Institute with codes 359.1 of the ICD-9 (1981-1998) and G71.0 of the ICD-10 (1999-2016). Age-adjusted mortality rates were calculated and changes in mortality trends were identified. The standardized mortality ratios (SMR) and their respective 95% confidence intervals were calculated by district for 1999-2016. Smoothed SMRs and posterior probability were also assessed and then mapped to look for patterns or geographic distribution. All rates were expressed per 1,000,000 inhabitants. A total of 2,512 deaths (73.8% men) were identified. The age-adjusted mortality rates varied from 0.63 (95% CI 0.40-0.95) in 1981 to 1.51 (95% CI 1.17-1.93) in 2016. MD mortality showed a significant increase of 8.81% per year (95% CI 5.0-12.7) from 1981 to 1990, remaining stable afterwards. Areas with risk of death higher than expected for Spain as a whole were identified, not showing a specific regional pattern. In conclusion, the rising trend in MD mortality might be attributable to advanced improvements in diagnostic techniques leading to a rise in prevalence. Further research on the districts with the highest mortality would be necessary.
Assuntos
Classificação Internacional de Doenças , Distrofias Musculares , Feminino , Humanos , Masculino , Mortalidade , Distrofias Musculares/epidemiologia , Prevalência , Pesquisa , Espanha/epidemiologiaRESUMO
The aim of this study was to assess the trend of motor neuron disease mortality in Spain from 1990 to 2005, and to ascertain the existence of geographical differences in mortality rates. MND deaths are registered by the National Statistics Institute of Spain International Classification of Diseases (ICD) codes ICD9 335.2 (1990-1998) and ICD10 G12.2 (1999-2005). Annual sex- and age-specific rates, as well as rates adjusted for the standard European population were obtained. Provincial standardized mortality ratios (SMRs) were calculated for the study period. Respective provincial SMRs were smoothed with data from adjacent provinces using a Poisson model. Results showed that MND mortality increased in Spain from 1990 to 2005. Geographical differences between provinces were evident throughout the study period. In general, risk of death due to MND was higher in regions lying to the north of Spain. In conclusion, the temporal and geographical variability observed might be explained by genetic factors, differences in environmental exposures and the possible influence of the type of medical care and treatment received. Mortality depends also on health service quality and diagnostic validity. All these factors may play a very important role in analysis of MND mortality in Spain, and the contribution of each of these will have to be examined in depth by ad hoc studies.
Assuntos
Geografia , Doença dos Neurônios Motores/mortalidade , Idoso , Exposição Ambiental , Feminino , Serviços de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Doença dos Neurônios Motores/diagnóstico , Doença dos Neurônios Motores/terapia , Sistema de Registros , Espanha/epidemiologiaRESUMO
Rare Diseases Epidemiology is a novel action field still largely unexplored. However, Rare Diseases is a topic of growing interest at world level. The aims of this chapter are to revise useful epidemiological tools and define areas where epidemiology can help improve the rare disease knowledge, and facilitate policy decisions taking into account the real burden of rare diseases in society. This chapter also seeks to describe: the problems of coding and classification of diseases, measuring disease frequency, the study designs and association studies, the causality, the evolution from descriptive to epigenetic epidemiology and the natural history of disease. One of the major challenges facing analytical epidemiology and clinical epidemiological research into rare diseases is that genes can be involved in both aetiology and prognosis. Despite the many similarities between genetic association studies and classic observational epidemiological studies, the former pose several specific limitations, including an unprecedented volume of new data and the likelihood of very small individual effects, as well other limitations. Selecting the appropriate pathway from among all those available, i.e. the one that best relates genes from the various known regions and disease mechanisms, is crucial for the success of this type of studies.
Assuntos
Doenças Raras/epidemiologia , Causalidade , Análise por Conglomerados , Projetos de Pesquisa Epidemiológica , Epigênese Genética , Indicadores Básicos de Saúde , Humanos , Prevalência , Doenças Raras/classificação , Doenças Raras/etiologia , Doenças Raras/genéticaRESUMO
OBJECTIVE: To identify the mortality directly attributed to hereditary haemorrhagic telangiectasia (HHT) in Spain, and to analyze its time trends and geographic variability. METHOD: Population-based deaths due to HHT were selected from the Spanish National Statistics Institute: codes 448.0 (ICD-9, 1981-1998) and I78.0 (ICD-10, 1999-2016) as the basic cause of death. Specific and age-adjusted mortality rates were calculated by sex, as well as standardized mortality ratios (SMR) by province and district, and smoothed SMR. RESULTS: We identified 327 deaths attributed to HHT (49.5% women), with the highest mortality at 80-84 years in men (0.220 per 100,000 inhabitants) and at 75-79 years in women (0.147 per 100,000 inhabitants). Age-adjusted mortality rates did not show any significant time trend between 1981 and 2016 in Spain. The provinces of Navarra, Cantabria, Guipúzcoa, Pontevedra and Las Palmas had higher than expected mortality, as well as the regions of Monte Sur (Ciudad Real) and Ripollès (Girona). CONCLUSIONS: This study has identified some regions with higher risk of death due to HHT in Spain. It is unknown whether these differences are associated with the distribution of types HHT1 and HHT2, and further studies will be necessary to know the determinants of this geographical variability. These findings are useful to complement the information provided by other studies and registries, and for health planning.
Assuntos
Telangiectasia Hemorrágica Hereditária/mortalidade , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Causas de Morte , Criança , Intervalos de Confiança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Distribuição por Sexo , Espanha/epidemiologia , Análise Espaço-Temporal , Adulto JovemRESUMO
BACKGROUND: Varicella virus can cause two different diseases: chickenpox and herpes zoster. In 2005 varicella vaccine has been introduced in the Spanish national vaccination schedule for 10-14 years old non-immune people, in order to reduce the severity of the disease. In 2007 a new surveillance protocol with aggregate data for chickenpox and herpes zoster was approved in order to detect any change in age distribution, severity and complications of the chickenpox and herpes zoster cases. The aim of this study is to know the burden of diseases (in the last ten years). METHODS: Number of cases, hospitalization and incidence for chickenpox and herpes zoster were study for two periods 1997-2003 and 2005-2007. Analysis for 1996-2007 fatal cases was done too. We decided to remove year 2004 because the extremely high chickenpox incidence registered. SOURCES OF DATA: RENAVE (Spanish Surveillance Network), Spanish hospital surveillance system (CMBD), and mortality registries. RESULTS: Chickenpox incidence decreased since 2005, but an increasing trend was detected in hospitalisation with an average of 1,311 hospitalizations every year. For the 32%-36% of hospitalized cases, the main diagnosis was not chickenpox. 4-14 deaths per year have been detected; 80% of them were older than 14 years. Annual rate of herpes zoster hospitalization was 2.5 per 100,000 inhabitants, similar in both sexes. Case fatality rate per year was 0.31 per million inhabitants. No significant changes were detected in age and sex in complicated cases between the two periods. 88% of chickenpox cases were younger than 15 years old and 64% of herpes zoster older than 50 years in 2007. CONCLUSIONS: Chickenpox has been decreasing during 2005-2007 in Spain. The impact of vaccination is difficult to asses, because of a peak registered in 2004 but also because the lack of vaccination coverage information for this period and the case-data information is available only for the last year.
Assuntos
Vacina contra Varicela , Varicela/epidemiologia , Varicela/prevenção & controle , Adolescente , Adulto , Varicela/complicações , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
The aim is to conduct a descriptive, population-based study in order to assess temporal and spatial changes in mortality due to granulomatosis with polyangiitis (GPA) in Spain from 1984 to 2016. Mortality data were obtained from the Spanish Annual Death Registry. Deaths in which GPA was the underlying cause were selected using the 446.4 and M31.3 codes from the International Classification of Diseases, 9th and 10th revision. Annual average age at death and age-adjusted mortality rates were calculated. Geographic analysis was performed at municipality and district level. Variations in mortality according to the type of municipality (urban, agro-urban or rural), district and geographic location (degrees of latitude) were assessed using standardized mortality ratios (SMRs) and smoothed-SMRs. Over the whole period, 620 deaths due to GPA were identified. Age at death increased at an average annual rate of 0.78% over the period 1987-2016 (p < 0.05). Age-adjusted mortality rates increased by an annual average of 20.58% from 1984 to 1992, after which they fell by 1.91% a year (p < 0.05). The agro-urban category had the highest percentage (4.57%) of municipalities with a significantly higher GPA mortality rate than expected. Geographic analysis revealed four districts with a higher risk of death due to GPA, two in the North of Spain and two in the South. This population-based study revealed an increase in the age at death attributed to GPA. Age-adjusted mortality rates went up sharply until 1992, after which they started to decline until the end of the study period. Geographic differences in mortality risk were identified but further studies will be necessary to ascertain the reasons for the distribution of GPA disease.
Assuntos
Granulomatose com Poliangiite/mortalidade , Feminino , Geografia , Granulomatose com Poliangiite/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Projetos de Pesquisa , Espanha/epidemiologiaRESUMO
BACKGROUND: Tetralogy of Fallot (TOF) is the most frequent cyanotic congenital heart defect. TOF mortality has fallen remarkably in recent years due to therapeutic advances. Accordingly, the aim of this study was to assess temporal and spatial variability in TOF-related mortality in Spain across the period 1981-2016, using data drawn from the nationwide population-based registry. METHODS: Annual deaths due to TOF were sourced from the Spanish National Institute of Statistics database by reference to International Classification of Diseases (ICD), 9th and 10th Revision codes, namely, ICD-9 code 745.2 (period 1981-1998) and ICD-10 code Q21.3 (period 1999-2016). Age-specific and age-adjusted mortality rates were calculated, as were standardised mortality ratios (SMRs) by province, district and municipality for the period 1999-2016. RESULTS: A total of 1035 deaths were attributed to TOF (57.78% of them were men and 42.22% were women). The age-adjusted mortality rate ranged from 0.75 per 1,000,000 inhabitants (95% confidence interval [CI]: 0-1.36) in 1981 to 0.03 per 1,000,000 (95% CI: 0.01-0.06) in 2016 for both sexes. In 2011, there was a change in the mortality trend, with a significant decrease of 49.22% per year (p < 0.001). In terms of geographical analysis, some areas with a significantly higher risk of TOF mortality were identified in the south of Spain, though no specific spatial pattern was in evidence. CONCLUSION: The decrease in TOF mortality may be related to improvements in diagnostic and treatment techniques. More studies are needed to analyse regions with a higher mortality risk, in order to improve medical planning and resource allocation, and identify risk factors and preventive measures.
Assuntos
Tetralogia de Fallot/mortalidade , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Cardiopatias Congênitas/mortalidade , Humanos , Lactente , Recém-Nascido , Classificação Internacional de Doenças , Masculino , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Espanha , Adulto JovemRESUMO
The aim of this study is to analyze population-based mortality attributed to cystic fibrosis (CF) over 36 years in Spain. CF deaths were obtained from the National Statistics Institute, using codes 277.0 from the International Classification of Diseases (ICD) ninth revision (ICD9-CM) and E84 from the tenth revision (ICD10) to determine the underlying cause of death. We calculated age-specific and age-adjusted mortality rates, and time trends were assessed using joinpoint regression. The geographic analysis by district was performed by standardized mortality ratios (SMRs) and smoothed-SMRs. A total of 1002 deaths due to CF were identified (50.5% women). Age-adjusted mortality rates fell by -0.95% per year between 1981 and 2016. The average age of death from CF increased due to the annual fall in the mortality of under-25s (-3.77% males, -2.37% females) and an increase in over-75s (3.49%). We identified districts with higher than expected death risks in the south (Andalusia), the Mediterranean coast (Murcia, Valencia, Catalonia), the West (Extremadura), and the Canary Islands. In conclusion, in this study we monitored the population-based mortality attributed to CF over a long period and found geographic differences in the risk of dying from this disease. These findings complement the information provided in other studies and registries and will be useful for health planning.
Assuntos
Fibrose Cística/mortalidade , Mortalidade/tendências , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Geografia , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Espanha/epidemiologia , Adulto JovemRESUMO
Autism Spectrum Disorders (ASD) are lifelong neurodevelopmental disabilities. Burden of Disease is an indicator that provides important information on health status and outcomes such as premature mortality and disability. In order to estimate the burden of disease of ASD in the Spanish population during 2003, we followed the procedures used in the WHO Global Burden of Disease Study. ASD generated 43,928 Disability Adjusted Life Years (DALY) in Spain in 2003, from which 33,797 were attributable to Autistic Disorder and 10,131 were caused by Asperger's Disorder and Pervasive Developmental Disorder-Not Otherwise Specified. DALY could be a useful tool for health policy makers for setting health service priorities, allocating available resources effectively and providing a comparable measure of output for early intervention.
Assuntos
Síndrome de Asperger/epidemiologia , Transtorno Autístico/epidemiologia , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Adolescente , Síndrome de Asperger/diagnóstico , Síndrome de Asperger/mortalidade , Síndrome de Asperger/psicologia , Transtorno Autístico/diagnóstico , Transtorno Autístico/mortalidade , Transtorno Autístico/psicologia , Criança , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/mortalidade , Transtornos Globais do Desenvolvimento Infantil/psicologia , Pré-Escolar , Estudos Transversais , Avaliação da Deficiência , Diagnóstico Precoce , Feminino , Política de Saúde , Necessidades e Demandas de Serviços de Saúde , Pesquisa sobre Serviços de Saúde , Humanos , Lactente , Masculino , Alocação de Recursos , EspanhaRESUMO
This study aimed to analyse population-based mortality attributed to rare congenital anomalies (CAs) and assess the associated time trends and geographical differences in Spain. Data on CA-related deaths were sourced from annual mortality databases kept by the National Statistics Institute of Spain (1999â»2013). Based on the ICD-10, only CAs corresponding to rare diseases definition were included in this study. Annual age-adjusted mortality rates were calculated and time trends were evaluated by joinpoint regression analysis. Geographical differences were assessed using standardised mortality ratios and cluster detection. A total of 13,660 rare-CA-related deaths (53.4% males) were identified in the study period. Annual age-adjusted mortality rates decreased by an average of -5.2% (-5.5% males, -4.8% females, p < 0.001). Geographical analysis showed a higher risk of rare-CA-related mortality in regions largely located in the south of the country. Despite their limitations, mortality statistics are essential and useful tools for enhancing knowledge of rare disease epidemiology and, by extension, for designing and targeting public health actions. Monitoring rare-CA-related mortality in Spain has shown a 15-year decline and geographical differences in the risk of death, all of which might well be taken into account by the health authorities in order to ensure equality and equity, and to adopt appropriate preventive measures.
Assuntos
Anormalidades Congênitas/mortalidade , Vigilância da População , Doenças Raras/mortalidade , Sistema de Registros/estatística & dados numéricos , Anormalidades Congênitas/epidemiologia , Feminino , Humanos , Masculino , Mortalidade/tendências , Doenças Raras/epidemiologia , Espanha/epidemiologia , Regressão EspacialRESUMO
BACKGROUND: The focus on the quality of the procedures for data collection, storing, and analysis in the definition and implementation of a rare disease registry (RDR) is the basis for developing a valid and long-term sustainable tool. The aim of this study was to provide useful information for characterizing a quality profile for RDRs using an analytical approach applied to RDRs participating in the European Platform for Rare Disease Registries 2011-2014 (EPIRARE) survey. METHODS: An indicator of quality was defined by choosing a small set of quality-related variables derived from the survey. The random forest method was used to identify the variables best defining a quality profile for RDRs. Fisher's exact test was employed to assess the association with the indicator of quality, and the Cochran-Armitage test was used to check the presence of a linear trend along different levels of quality. RESULTS: The set of variables found to characterize high-quality RDRs focused on ethical and legal issues, governance, communication of activities and results, established procedures to regulate access to data and security, and established plans to ensure long-term sustainability. CONCLUSIONS: The quality of RDRs is usually associated with a good oversight and governance mechanism and with durable funding. The results suggest that RDRs would benefit from support in management, information technology, epidemiology, and statistics.
Assuntos
Doenças Raras , Sistema de Registros/normas , Gerenciamento Clínico , Europa (Continente) , Humanos , Melhoria de Qualidade , Doenças Raras/epidemiologia , Sistema de Registros/estatística & dados numéricosRESUMO
AIM: To assess the differences in the cost-effectiveness of oral triptan therapy for migraines among European countries. METHODS: A cost-effectiveness analysis of triptan therapy for migraine was conducted from a health-care payer perspective in four European countries (France, Italy, Spain and the UK). The study included those orally administered triptans available in all of these countries (almotriptan, brand-name sumatriptan, generic sumatriptan, zolmitriptan), and it was performed using a decision-tree model that incorporated costs of the drugs and probabilities associated with the possible events and outcomes. Average cost-effectiveness ratios were calculated in two different scenarios. RESULTS: The average cost-effectiveness ratio showed wide variations across the different countries, these differences being up to 131 % (almotriptan), 77 % (brand-name sumatriptan), 153 % (generic sumatriptan) and 77 % (zolmitriptan). Generic sumatriptan was the most cost-effective drug analysed in the studied countries. CONCLUSIONS: Caution must be taken when trying to transfer conclusions of pharmacoeconomics studies on migraines even in neighbouring countries. This cross-country variability is a concern for decision-makers and also for the elaboration of international recommendations and clinical practice guidelines.