Multiple Sources Of Case Ascertainment Research Articles

Estimating the clinical prevalence of Wilson’s disease in the UK

Background & AimsThe clinical prevalence of Wilson’s disease (WD) in the UK remains unknown. The estimated genetic prevalence in the UK, 142/million, is higher than the clinical prevalence (15/million) reported in other European studies. The aim of this study was to estimate the clinical prevalence of WD utilising readily available laboratory and clinical data.MethodPatients with WD who attended Nottingham University Hospital NHS Trust (NUH) between 2011 and 2018 were identified using multiple sources of case ascertainment: serum ceruloplasmin, 24-hour urinary copper, ‘Wilson’ in liver biopsy report, hospital prescription for penicillamine/trientine/zinc and admission coded with ICD-10 Code E83.0 (disorder of copper metabolism). Potential cases were identified using the Leipzig score, diagnosis was confirmed in hospital records and the point prevalence was calculated using the Office for National Statistics mid-2017 population estimates.ResultsA total of 1,794 patients were identified from ≥1 source; 19 patients had WD, of whom 11 were from within the study catchment area and alive at the time of point prevalence estimation. Twenty-nine patients had a Leipzig score ≥2 without a diagnosis of WD, but none had WD on screening (n = 16). The overall prevalence of WD was 15.5/million; males 16.9/million and females 14.1/million.ConclusionThis is the first UK population-based study to assess the clinical prevalence of WD. The reported clinical prevalence is lower than the UK genetic prevalence, but comparable to the clinical prevalence reported in Europe. The case ascertainment approach used in this study may be cost-effective, and similar practises could be adopted nationally.Lay summaryOur study estimates the clinical prevalence of Wilson’s disease, a rare genetic disorder of copper metabolism, in the UK. The estimated clinical prevalence is this study is markedly lower than the estimated UK genetic prevalence.

Age-specific ALS incidence: a dose-response meta-analysis.

To evaluate the association between worldwide ALS incidence rates and age, using a dose-response meta-analysis. We reviewed Medline and Embase up to July 2016 and included all population-based studies of newly-diagnosed cases, using multiple sources for case ascertainment. A dose-response meta-analysis was performed. A meta-regression investigated potential sources of heterogeneity. Of 3254 articles identified in the literature, we included 41 incidence studies covering 42 geographical areas. Overall, the fit between observed and predicted age-specific rates was very good. The expected variation of ALS incidence with age was characterized, in each study, by a progressive increase in the incidence from the 40s leading to a peak in the 60s or 70s, followed by a sharp decrease. Cochran's Q test suggested a significant heterogeneity between studies. Overall, estimated patterns of ALS age-specific incidence (at which the peak was reached) were similar among subcontinents of Europe and North America: peak of ALS incidence ranged in these areas between 6.98 and 8.17/100,000 PYFU, which referred to age in the range 71.6-77.4years. The relationship between age and ALS incidence appeared different for Eastern Asia which was characterized by a peak of ALS incidence at 2.20/100,000 PYFU around 75years of age. This study confirms the consistency of the age-specific ALS incidence pattern within different subcontinents. Age-specific incidence appears lower in Eastern Asia as compared to Europe and North America.

The ReCaPTa study - a prospective out of hospital cardiac arrest registry including multiple sources of surveillance for the study of sudden cardiac death in the Mediterranean area.

BackgroundCardiovascular diseases are one of the leading causes of death in the industrialized world. Sudden cardiac death is very often the first manifestation of the disease and it occurs in the prehospital setting.The determination of the sudden cardiac death phenotype is challenging. It requires prospective studies in the community including multiple sources of case ascertainment that help to identify the cause and circumstances of death.The aim of the Clinical and Pathological Registry of Tarragona (ReCaPTa) is to study incidence and etiology of Sudden Cardiac Death in the Tarragona region (Catalonia, Spain).MethodsReCaPTa is a population-based registry of OHCA using multiple sources of surveillance. The population base is 511,662. This registry is compiled chronologically in a relational database and it prospectively contains data on all the OHCA attended by the EMS from April 2014 to April 2017. ReCaPTa collects data after each emergency medical assistance using an online application including variables of the onset of symptoms. A quality control is performed and it permits monitoring the percentage of cases included by the emergency crew. Simultaneously, data from the medico-legal autopsies is taken from the Pathology Center of the area. All the examination findings following a specific protocol for the sudden death study are entered into the ReCaPTa database by one trained person. Survivors admitted to hospital are followed up and their clinical variables are collected in each hospital. The primary care researchers analyze the digital clinical records in order to obtain medical background. All the available data will be reviewed after an adjudication process with the aim of identifying all cases of sudden cardiac death.DiscussionThere is a lack of population-based registries including multiple source of surveillance in the Mediterranean area. The ReCaPTa study could provide valuable information to prevent sudden cardiac death and develop new strategies to improve its survival.

Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis

BackgroundTo assess the worldwide variation of amyotrophic lateral sclerosis (ALS) incidence, we performed a systematic review and meta-analysis of population-based data published to date.MethodsWe reviewed Medline and Embase up to June 2015 and included all population-based studies of newly diagnosed ALS cases, using multiple sources for case ascertainment. ALS crude and standardized incidence (on age and sex using the US 2010 population) were calculated. Random effect meta-analysis and meta-regression were performed using the subcontinent as the main study level covariate. Sources of heterogeneity related to the characteristics of the study population and the study methodology were investigated.ResultsAmong 3216 records, 44 studies were selected, covering 45 geographical areas in 11 sub-continents. A total of 13 146 ALS cases and 825 million person-years of follow-up (PYFU) were co-nsidered. The overall pooled worldwide crude ALS incidence was at 1.75 (1.55–1.96)/100 000 PYFU; 1.68 (1.50–1.85)/100 000 PYFU after standardization. Heterogeneity was identified in ALS standardized incidence between North Europe [1.89 (1.46–2.32)/100 000 PYFU] and East Asia [0.83 (0.42–1.24)/100 000 PYFU, China and Japan P = 0.001] or South Asia [0.73 (0.58–0.89)/100 000/PYFU Iran, P = 0.02]. Conversely, homogeneous rates have been reported in populations from Europe, North America and New Zealand [pooled ALS standardized incidence of 1.81 (1.66-1.97)/100 000 PYFU for those areas].ConclusionThis review confirms a heterogeneous distribution worldwide of ALS, and sets the scene to sustain a collaborative study involving a wide international consortium to investigate the link between ancestry, environment and ALS incidence.

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies.

The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakness and mode of inheritance. We previously performed a systematic review of worldwide population-based studies on Duchenne and Becker muscular dystrophies; the current study focused on the epidemiology of other muscular dystrophies using Medline and EMBASE databases. Two reviewers independently reviewed all abstracts, full-text articles, and abstracted data from 1985 to 2011. Pooling of prevalence estimates was performed using random-effect models. A total of 1104 abstracts and 167 full-text articles were reviewed. Thirty-one studies met all eligibility criteria and were included in the final analysis. The overall pooled prevalence of combined muscular dystrophies was 16.14 (confidence interval [CI], 11.21-23.23) per 100,000. The prevalence estimates per 100,000 were 8.26 (CI, 4.99-13.68) for myotonic dystrophy, 3.95 (CI, 2.89-5.40) for facioscapulohumeral dystrophy, 1.63 (CI, 0.94-2.81) for limb girdle muscular dystrophy, and 0.99 (CI, 0.62-1.57) for congenital muscular dystrophies. The studies differed widely in their approaches to case ascertainment, and substantial gaps remain in the global estimates of many other types of muscular dystrophies. Additional epidemiological studies using standardized diagnostic criteria as well as multiple sources of case ascertainment will help address the economic impact and health care burden of muscular dystrophies worldwide.

A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy

The muscular dystrophies are a broad group of hereditary muscle diseases with variable severity. Population-based prevalence estimates have been reported but pooled estimates are not available. We performed a systematic review of worldwide population-based studies reporting muscular dystrophies prevalence and/or incidence using MEDLINE and EMBASE databases. The search strategy included key terms related to muscular dystrophies, incidence, prevalence and epidemiology. Two reviewers independently reviewed all abstracts, full text articles and abstracted data using standardized forms. Pooling of prevalence estimates was performed using random effect models. 1104 abstracts and 167 full text articles were reviewed. Thirty-one studies met all eligibility criteria and were included in the final analysis. The studies differed widely in their approaches to case ascertainment, resulting in significant methodological heterogeneity and varied data quality. The pooled prevalence of DMD and BMD was 4.78 (95% CI 1.94–11.81) and 1.53 (95% CI 0.26–8.94) per 100,000 males respectively. The incidence of DMD ranged from 10.71 to 27.78 per 100,000. This is the first meta-analysis of worldwide prevalence estimates for muscular dystrophies. There is a need for more epidemiological studies addressing global estimates on incidence and prevalence of muscular dystrophies, utilizing standardized diagnostic criteria as well as multiple sources of case ascertainment.

The incidence of Parkinson's disease in the North-East of England

Parkinson's disease is a common disorder among older people. Accurate epidemiological information is essential to identify possible aetiological factors, plan health services and set priorities for medical research. to determine the incidence of idiopathic Parkinson's disease in a defined geographical area in the North-East of England. using a prospective, longitudinal design, we sought to identify every new case of Parkinson's disease arising in the Newcastle and Gateshead area in the North-East of England. The base population comprised 488 576 individuals and multiple sources of case ascertainment were employed. All the patients with newly diagnosed idiopathic Parkinson's disease or parkinsonism between 1 June 2009 and 31 May 2011 were invited to participate. Patients were examined by a specialist and followed longitudinally to permit diagnostic review. we identified 257 potential cases, of whom 181 had suspected idiopathic Parkinson's disease. After a follow-up period of 18 months, 155 patients retained a clinical diagnosis of probable Parkinson's disease. The mean age at diagnosis was 72.4 ± 10 years. The crude incidence of PD in Newcastle and Gateshead was 15.9 per 100 000 persons per year (95% CI: 13.4-18.4). Age-standardised to the European population the incidence of Parkinson's disease was 12.0 per 100 000 (95% CI: 10.1-14.0). We found a higher crude incidence among men 17.7 per 100 000 (95% CI: 14.0-21.4) than women 14.0 per 100 000 (95% CI: 10.7-17.4). in this prospective longitudinal study, the incidence rate of Parkinson's disease in North-East England is similar to that of other modern European and American studies.

Temporal trend of amyotrophic lateral sclerosis incidence in southern Europe: a population study in the health district of Ferrara, Italy

Data about the temporal trend of amyotrophic lateral sclerosis (ALS) incidence in southern Europe are scarce. Incidence studies on ALS have been carried out in the health district of Ferrara, Italy, since 1960s. We expanded the previous studies from 1964 to 2009. The study was prospective with a subsequent retrospective intensive survey of multiple sources of case ascertainment. All patients with a definite and probable ALS according to the original El Escorial criteria were selected. There were 130 incident cases in the years 1964-2009 giving an average annual crude incidence of 1.82 per 100,000 population (95% CI 1.53-2.17). An incidence increase during the study period was estimated in women (χ(2) test for trend = 7.19, p < 0.01) and in the elderly (χ(2) test for trend = 7.803, p < 0.01). The age-adjusted incidence was stable over time in both women (1.19 per 100,000, 95% CI 0.90-1.52) and men (1.45 per 100,000, 95% CI 0.12-1.84). The annual number of new ALS cases in the study population followed the Poisson distribution in both sexes as well as in the elderly group of the population. The present findings suggest that ALS incidence is nearly stable over time. The crude incidence increase we estimated over time among women is mainly explained by population ageing. The increasing incidence in the elderly population was likely the consequence of an increasing precision in ALS diagnosis in the elderly since the increasing attention and care over time of neurologic elderly patients that likely concern elderly women more than previous time periods rather than better case ascertainment of diagnosed patients. The present findings do not support the role of specific environmental factors in ALS pathogenesis.

Incidence of Parkinson's disease and atypical parkinsonism: Russian population‐based study

Data on the incidence of Parkinson's disease (PD) and atypical parkinsonian syndromes (APS) in East European countries and Asia are limited. The objective of this prospective population-based study was to determine the incidence of PD and APS in the Russian population. The study area was a large district of Moscow with a population of 1,237,900 inhabitants. Multiple sources of case ascertainment were used to identify incident cases of PD and APS between July 2006 and December 2008. All incident cases were examined by a specialist and followed up prospectively to confirm the diagnosis. The age-standardized incidence rates per 100,000/year were 9.03 [95% confidence interval (CI) 8.01-10.15] for PD, 0.11 (95% CI 0.03-0.23) for multiple system atrophy, 0.14 (95% CI 0.08-0.21) for progressive supranuclear palsy, and 0.02 (95% CI 0.01-0.12) for corticobasal degeneration. The age-standardized male-to-female ratio of PD was 0.87 for all ages and 1.46 for those aged 60 and older. A high proportion of new cases with PD (34%) and APS (50%) had comorbid depressive symptoms. Given the rapid growth of the elderly population in Eastern Europe and Asia, the epidemiology of PD and APS in these regions should be investigated in greater depth. The incidence of PD in our study was slightly lower than in studies of Western populations and the male-to-female ratio was closer to those reported in studies from Asia. The clinical implication of our study is that it highlights the need for better diagnosis and treatment of depression in early stages of PD.

Incidence of Parkinson’s disease in Norway: the Norwegian ParkWest study

Objective:To present the incidence of Parkinson’s disease (PD) in Norway and to explore gender influences on incidence and age at onset, as well as severity and pattern of parkinsonism at...

Factors in the rising prevalence of multiple sclerosis in the north-east of Ireland

Background Northern Ireland is recognized as an area of high risk for multiple sclerosis. The original study of Allison and Millar in 1951 found a prevalence of 51/100,000 and mean annual incidence of 2.74/100,000/year. Subsequent studies in 1961, 1986, and 1996 suggested rising prevalence – 80, 138, and 168.2/100,000, respectively. Methods In 2004, we surveyed the North-East of Northern Ireland (population 160,446, area 2030 km2) using multiple sources of case ascertainment, all satisfying the Poser criteria for definite or probable multiple sclerosis (MS) or the McDonald criteria. Results From a provisional list of 469 cases, 370 (123 males, 247 females) were identified. The prevalence was 230.6 per 100,000 (95% CI 207.0–255.4) with significantly higher prevalence in females (300.8/100,000) than males (157.0/100,000). Direct standardization to the 1961 Northern Ireland population reduced the overall prevalence rate to 200.5/100,000 (95% CI 193.2–208.0), in females to 270.2/100,000 (95% CI 258.8–282.4) and in males to 131.1/100,000 (95% CI 122.8–139.9). In 1996, incidence had risen to 9.3/100,000/year (14 cases in population of 151,000) with a higher incidence in females (10.3/100,000/year) than males (8.3/100,000/year). Conclusions Northern Ireland continues to have a rising prevalence of MS. The increase in incidence suggests a true increase in the disease.

Comparison of two fatal occupational injury surveillance systems in the United States

Introduction: Using different methods, two national systems compile fatal occupational injury data in the United States: the National Institute for Occupational Safety and Health (NIOSH) National Traumatic Occupational Fatalities (NTOF) surveillance system, and the Bureau of Labor Statistics (BLS) Census of Fatal Occupational Injuries (CFOI). The NTOF uses only death certificates, while CFOI uses multiple sources for case ascertainment. Methods: Through overall and case-by-case comparisons, this study compares these systems and evaluates counts for the nation and by state for worker and case characteristics. Results: From 1992 through 1994, NTOF reported an average of 84% of the number of traumatic occupational fatalities reported in CFOI. This percentage changed somewhat when a case-by-case comparison was conducted—88% of the NTOF cases were matched directly to the CFOI cases. Although CFOI captured a larger number of fatalities annually, the additional fatalities did not follow a discernable pattern. Impact on industry: By understanding the distribution of fatalities, targeted efforts to reduce them will benefit all industries.

East Ireland 1980-1994: epidemiology of neural tube defects.

STUDY OBJECTIVE: The objective of the study was to describe the epidemiology of neural tube defects (NTD) in the eastern region of Ireland using the EUROCAT register of congenital malformations....

Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988–94

AIMTo describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988–94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the...

The Tees Stroke Register: The Value of Multiple Sources of Case Ascertainment

The Tees Stroke Register: The Value of Multiple Sources of Case Ascertainment

The surveillance of birth defects: the usefulness of the revised US standard birth certificate.

To assess the sensitivity and positive predictive value of birth defects reported on the 1989 revision of the US Standard Birth Certificate, a population of 76,862 Atlanta-area births during 1989 and 1990 was used as the basis for comparing 771 birth certificates that reported birth defects with 2428 live-born infant records in a birth defects registry that uses multiple sources of case ascertainment. Only 14% of birth defects in the registry records were reported on birth certificates. After the analysis was restricted to defects recognizable at birth, the sensitivity and positive predictive value of the birth certificates were 28% and 77%, respectively. Birth certificates underestimate birth defect rates and should be used cautiously for birth defect surveillance and epidemiological studies.

The epidemiology of Down syndrome in four counties in Ireland 1981-1990

We conducted a descriptive epidemiological study of Down syndrome (DS) in the four Irish counties (Dublin, Kildare, Wicklow and Galway) covered by EUROCAT registries of congenital malformations for the years 1981-1990. EUROCAT registries, which cover defined populations, use multiple sources for case ascertainment. All DS cases born between 1 January 1981 and 31 December 1990 to mothers resident in the four counties were identified. Crude birth prevalence rates and maternal age-standardized rates (SPRs) were calculated for each county and for each year in the study period. The prevalence of DS by maternal age grouped in five-year periods and the risk for each five-year group were also estimated. The crude birth prevalence for the four counties was 18.5/10 000 for all births and 18.3 for live births. There was a fall in the total number of DS births over the decade, but less change in the crude birth prevalence owing to an increase in the proportion of mothers aged 35+. Galway had the highest crude birth prevalence of DS (23.5/10 000) but the SPR was within average for the four counties as a whole - 110.3, 95 per cent confidence interval (CI) 86.7-139. The risk of having a DS child increased 70-fold from 1:1841 at age 15-19 to 1:26 at 45 years or older. Nearly half of all DS cases (47.4 per cent) had at least one additional anomaly. The parts of Ireland covered by EUROCAT have a high birth prevalence of DS births as compared with some other countries, but the maternal age-specific rates are not substantially different from those in large international studies.

Validation of a Population Screening Questionnaire to Assess Prevalence of Stroke

A cross-sectional survey is the best method for determining the prevalence of a chronic condition such as stroke. Before embarking on a large population study, a valid screening instrument is necessary. This study aimed to validate a self-completion postal screening questionnaire for assessing lifetime history of stroke. A random sample of 2000 people aged 45 years and over was selected from the Family Health Services Authority register. A brief self-completion questionnaire requesting self-reported history of stroke was mailed to each individual. Responders reporting a history of stroke received a request for a standardized home assessment visit. Confirmation of the diagnosis of stroke was made based on information from the home visit together with multiple sources of case ascertainment. False-negative responses and assessment of nonresponse bias were documented. The response rate for the questionnaire was 88%. Of the sample, 120 (6%) who were wrongly registered were excluded; 173 (10%) of the 1663 responders reported a history of stroke. The question "Have you ever had a stroke?" had a sensitivity of 95% and a specificity of 96%. This simple self-completion questionnaire is a valid means of screening for cases of stroke in the community and could form the basis for subsequent studies of prevalence and health needs.

Maternal age and oral cleft malformations: data from a population-based series of 576,815 consecutive livebirths.

It has been suggested that older mothers are more likely to have a child with isolated cleft palate (CP) or cleft lip +/- cleft palate (CL +/- CP), but most of these studies have been based on fairly small sample sizes. Data from a population-based registry with multiple sources of case ascertainment were used to examine any association of maternal age with the incidence of these defects in infants without other congenital anomalies. The study group consisted of all cases with CP or CL +/- CP without other congenital anomalies from a series of over half a million consecutive livebirths during the period 1966 to 1981 inclusive in British Columbia. During the study period, the overall incidences of isolated CP and isolated CL +/- CP per 10,000 livebirths were 3.9 and 8.2, respectively. No association with maternal age was found when either isolated CP or isolated CL +/- CP was analyzed as a group. When analyzed by sex, and by CP or CL +/- CP, no significant maternal-age effect was observed for males and females with CP or CL +/- CP. Our population-based data, therefore, do not show that older mothers are more likely to have a child with cleft palate, or cleft lip +/- cleft palate.

Bacterial meningitis in children under five years of age in Western Australia

To describe the epidemiology and the associated mortality and serious neurological sequelae of bacterial meningitis in children under five years of age in Western Australia, and to consider the potential impact of a Haemophilus influenzae type b vaccine on this group of children. A retrospective survey, using multiple sources of case ascertainment. All children in Western Australia from one month to five years of age who developed bacterial meningitis, over a five-year period (from 1984 to 1988 inclusive). Episodes of bacterial meningitis, deaths associated with bacterial meningitis, and sensorineural deafness (requiring hearing aids) and cerebral palsy following bacterial meningitis. Two hundred and seventy episodes of bacterial meningitis were identified; 200 occurred in non-Aboriginal children and 70 in Aboriginal children. There were 16 meningitis-associated deaths (case fatality rate, 5.9%), 7 children developed profound sensorineural deafness and a further 7 children developed cerebral palsy after bacterial meningitis. H. influenzae type b caused nearly 70% of the cases of childhood bacterial meningitis. The annual incidence rate of H. influenzae meningitis was significantly greater in Aboriginal children (150 episodes per 100,000 children under five years of age per year) than in non-Aboriginal children (27 episodes per 100,000), and the mean age of onset of H. influenzae meningitis was significantly lower in Aboriginal children (6.8 months) than in non-Aboriginal children (19.8 months). Any conjugate H. influenzae type b vaccine should be effective when administered to non-Aboriginal children in the first six months of life, but only the most immunogenic vaccines (for example, the vaccine known as PRP-OMP) are likely to be effective in Aboriginal infants.