scholarly journals Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Esther Vicente ◽  
Ainara Ruiz de Sabando ◽  
Fermín García ◽  
Itziar Gastón ◽  
Eva Ardanaz ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Huntington Disease ◽  
Late Onset ◽  
Age At Onset ◽  
Population Based ◽  
Molecular Testing ◽  
Mortality Trends ◽  
Predictive Values ◽  
Diagnostic Codes ◽  
Incidence And Mortality

Abstract Background There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data sources. This study investigates the validity and accuracy of national and international diagnostic codes for HD in multiple HIS and analyses the epidemiologic trends of HD in the Autonomous Community of Navarre (Spain). Methods HD cases were ascertained by the Rare Diseases Registry and the reference Medical Genetics Centre of Navarre. Positive predictive values (PPV) and sensitivity with 95% confidence intervals (95% CI) were estimated. Overall and 9-year periods (1991–2017) HD prevalence, incidence and mortality rates were calculated, and trends were assessed by Joinpoint regression. Results Overall PPV and sensitivity of combined HIS were 71.8% (95% CI: 59.7, 81.6) and 82.2% (95% CI: 70.1, 90.4), respectively. Primary care data was a more valuable resource for HD ascertainment than hospital discharge records, with 66% versus 50% sensitivity, respectively. It also had the highest number of “unique to source” cases. Thirty-five per cent of HD patients were identified by a single database and only 4% by all explored sources. Point prevalence was 4.94 (95% CI: 3.23, 6.65) per 100,000 in December 2017, and showed an annual 6.1% increase from 1991 to 1999. Incidence and mortality trends remained stable since 1995–96, with mean annual rates per 100,000 of 0.36 (95% CI: 0.27, 0.47) and 0.23 (95% CI: 0.16, 0.32), respectively. Late-onset HD patients (23.1%), mean age at onset (49.6 years), age at death (66.6 years) and duration of disease (16.7 years) were slightly higher than previously reported. Conclusion HD did not experience true temporary variations in prevalence, incidence or mortality over 23 years of post-molecular testing in our population. Ascertainment bias may largely explain the worldwide heterogeneity in results of HD epidemiological estimates. Population-based rare diseases registries are valuable instruments for epidemiological studies on low prevalence genetic diseases, like HD, as long as they include validated data from multiple HIS and genetic/family information.

Incidence, Mortality, and Spatiotemporal Distribution of Cutaneous Malignant Melanoma Cases Across Canada

2019 ◽  
Vol 23 (4) ◽  
pp. 394-412 ◽  
Author(s):  
Feras M. Ghazawi ◽  
Michelle Le ◽  
François Lagacé ◽  
Janelle Cyr ◽  
Nebras Alghazawi ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Age Groups ◽  
Population Based ◽  
Geographic Region ◽  
Cutaneous Malignant Melanoma ◽  
Steady Increase ◽  
Mortality Trends ◽  
Incidence And Mortality ◽  
Future Burden ◽  
Melanoma Mortality

Background: We recently reported a steady increase in the incidence and mortality of cutaneous malignant melanoma (CMM) in Canada during 1992-2010. Objectives: The objective of this article is to examine the distribution of Canadian CMM patients at the level of provinces, cities, and forward sortation area (FSA) postal codes. Methods: Using 3 Canadian population-based registries, we conducted an in-depth examination of the incidence and mortality trends for 72 565 Canadian CMM patients over the period 1992-2010. Results: We found that among 20- to 39-year-olds, the incidence of CMM in women (7.17 per 100 000 individuals) was significantly higher than in men (4.60 per 100 000 individuals per year). Women age 80 years and older had an incidence of CMM (58.46 cases per 100 000 women per year) more than 4 times greater than the national average (12.29 cases per 100 000 population per year) and a corresponding high mortality rate (20.18 deaths per 100 000 women per year), when compared with the Canadian melanoma mortality of 2.4 deaths per 100 000 per year. In other age groups men had higher incidence and corresponding melanoma mortality rates. We also studied CMM incidence by province, city, and FSA postal codes and identified several high-incidence communities that were located near the coast/waterfronts. In addition, plotting latitude measures for cities and FSAs vs CMM incidence rate confirmed the inverse relationship between geographical latitude and incidence of melanoma in Canada (slope = –0.22 ± 0.05). Conclusions: This research may help develop sex-, age- and geographic region-specific recommendations to decrease the future burden of CMM in Canada.

scholarly journals Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

Brain ◽  
2019 ◽  
Vol 142 (9) ◽  
pp. 2828-2844 ◽  
Author(s):  
Manuela M X Tan ◽  
Naveed Malek ◽  
Michael A Lawton ◽  
Leon Hubbard ◽  
Alan M Pittman ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Clinical Features ◽  
Late Onset ◽  
Age At Onset ◽  
Population Based ◽  
Data Movement ◽  
Young Onset ◽  
Number Of Patients

AbstractOur objective was to define the prevalence and clinical features of genetic Parkinson’s disease in a large UK population-based cohort, the largest multicentre prospective clinico-genetic incident study in the world. We collected demographic data, Movement Disorder Society Unified Parkinson’s Disease Rating Scale scores, and Montreal Cognitive Assessment scores. We analysed mutations in PRKN (parkin), PINK1, LRRK2 and SNCA in relation to age at symptom onset, family history and clinical features. Of the 2262 participants recruited to the Tracking Parkinson’s study, 424 had young-onset Parkinson’s disease (age at onset ≤ 50) and 1799 had late onset Parkinson’s disease. A range of methods were used to genotype 2005 patients: 302 young-onset patients were fully genotyped with multiplex ligation-dependent probe amplification and either Sanger and/or exome sequencing; and 1701 late-onset patients were genotyped with the LRRK2 ‘Kompetitive’ allele-specific polymerase chain reaction assay and/or exome sequencing (two patients had missing age at onset). We identified 29 (1.4%) patients carrying pathogenic mutations. Eighteen patients carried the G2019S or R1441C mutations in LRRK2, and one patient carried a heterozygous duplication in SNCA. In PRKN, we identified patients carrying deletions of exons 1, 4 and 5, and P113Xfs, R275W, G430D and R33X. In PINK1, two patients carried deletions in exon 1 and 5, and the W90Xfs point mutation. Eighteen per cent of patients with age at onset ≤30 and 7.4% of patients from large dominant families carried pathogenic Mendelian gene mutations. Of all young-onset patients, 10 (3.3%) carried biallelic mutations in PRKN or PINK1. Across the whole cohort, 18 patients (0.9%) carried pathogenic LRRK2 mutations and one (0.05%) carried an SNCA duplication. There is a significant burden of LRRK2 G2019S in patients with both apparently sporadic and familial disease. In young-onset patients, dominant and recessive mutations were equally common. There were no differences in clinical features between LRRK2 carriers and non-carriers. However, we did find that PRKN and PINK1 mutation carriers have distinctive clinical features compared to young-onset non-carriers, with more postural symptoms at diagnosis and less cognitive impairment, after adjusting for age and disease duration. This supports the idea that there is a distinct clinical profile of PRKN and PINK1-related Parkinson’s disease. We estimate that there are approaching 1000 patients with a known genetic aetiology in the UK Parkinson’s disease population. A small but significant number of patients carry causal variants in LRRK2, SNCA, PRKN and PINK1 that could potentially be targeted by new therapies, such as LRRK2 inhibitors.

Age at onset as a determinant of presenting phenotype and initial relapse recovery in multiple sclerosis

2011 ◽  
Vol 18 (1) ◽  
pp. 45-54 ◽  
Author(s):  
M Cossburn ◽  
G Ingram ◽  
C Hirst ◽  
Y Ben-Shlomo ◽  
TP Pickersgill ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Late Onset ◽  
Age At Onset ◽  
Disease Onset ◽  
Complete Recovery ◽  
Population Based ◽  
Disease Course ◽  
Index Event ◽  
Relapsing Remitting ◽  
Age Dependent

Background: Age at onset modifies prognosis in multiple sclerosis (MS) and may also exert an effect on the characteristics of disease ignition. Understanding how age influences presentation informs disease management and may allow differentiation of distinct clinical sub-groups. Objectives: To determine the nature of age-specific presentations of relapsing–remitting MS (RRMS) with respect to onset symptoms, gender ratios and index event outcomes. Methods: In a prospective, population-based sample of 1424 patients in South-East Wales we examined associations between age at onset, clinical features and outcome of the onset event, making specific comparisons between paediatric, adolescent and late-onset MS. Results: Age at onset varied significantly between sexes (Male 31.2, Female 29.3, p = 0.002), 0.7% had paediatric onset, 2.7% adolescent onset and 2.8% late-onset MS (>50 years). Optic neuritis was common in younger patients and declined after age 30. Lower limb motor, facial sensory, sexual and sphincteric symptoms rose with age independent of sex and disease course. F:M ratios were highest <16 years of age and declined with increasing age, with a male excess in those over 50. Probability of complete recovery from index event declined with age from 87.4% in the youngest group to 68% in the eldest ( p = 0.009). Conclusions: Age at disease onset in RRMS exerts a significant effect on gender ratios and presenting phenotype, and allows identification of specific clinical sub-groups. In addition, ability to recover from initial relapse declines with age, suggesting accumulation of disability in MS is an age-dependent response to relapse.

scholarly journals Population Based Trends in the Incidence of Hospital Admission for the Diagnosis of Hepatorenal Syndrome: 1998–2011

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Manish Suneja ◽  
Fan Tang ◽  
Joseph E. Cavanaugh ◽  
Linnea A. Polgreen ◽  
Philip M. Polgreen
Keyword(s):  
Change Point ◽  
Hepatorenal Syndrome ◽  
Hospital Admissions ◽  
Piecewise Linear ◽  
Population Based ◽  
Primary Diagnosis ◽  
Therapeutic Interventions ◽  
Mortality Trends ◽  
Incidence Trends ◽  
Incidence And Mortality

Background and Objectives. Hepatorenal syndrome carries a high risk of mortality. Understanding the incidence and mortality trends in hepatorenal syndrome will help inform future studies regarding the safety and efficacy of potential therapeutic interventions.Design and Methods. We conducted a retrospective cohort study using the Nationwide Inpatient Sample. We identified hospitalizations from January 1998–June 2011 with a primary diagnosis of hepatorenal syndrome. To characterize the incidence trends in monthly hepatorenal syndrome hospitalizations, we fit a piecewise linear model with a change point at January 2008. We examined hospital and patient characteristics before and after the change point.Results. Hospital admissions with a diagnosis of hepatorenal syndrome increased markedly between September of 2007 and March of 2008. Comparing patients who were admitted with a diagnosis of hepatorenal syndrome prior to 2008 with those after 2008, we found that length of stay increased while the mortality of patients admitted for hepatorenal syndrome decreased.Conclusion. The revision of the diagnostic criteria for hepatorenal syndrome may have contributed to the increase in the incidence of admissions for hepatorenal syndrome. However, the changes in the principles of hepatorenal syndrome management may have also contributed to the increase in incidence and lower mortality.

scholarly journals Racial Disparities in Incidence and Mortality Trends of Glioblastoma; A Population-Based Study

2019 ◽  
Vol 30 ◽  
pp. vi133-vi134
Author(s):  
Inas A. Ruhban ◽  
Mahmad Wafa Khoudeir ◽  
Anas M. Saad ◽  
Muneer J. Al-Husseini ◽  
Khalid A. Jazieh ◽  
...  
Keyword(s):  
Racial Disparities ◽  
Population Based ◽  
Mortality Trends ◽  
Population Based Study ◽  
Incidence And Mortality

scholarly journals Predicting Literacy Skills at 8 Years From Preschool Language Trajectories: A Population-Based Cohort Study

2020 ◽  
Vol 63 (8) ◽  
pp. 2752-2762
Author(s):  
Fufen Jin ◽  
Synnve Schjølberg ◽  
Mari Vaage Wang ◽  
Patricia Eadie ◽  
Ragnhild Bang Nes ◽  
...  
Keyword(s):  
Cohort Study ◽  
Oral Language ◽  
Late Onset ◽  
Binary Logistic Regression ◽  
Population Based ◽  
Literacy Skills ◽  
Preschool Age ◽  
Language And Literacy ◽  
Predictive Values ◽  
Gender Specific

Purpose This article explored the predictive values of three main language delay (LD) trajectories (i.e., persistent, late onset, and transient) across 3–5 years on poor literacy at 8 years. Additionally, the effect of gender was assessed, using both gender-neutral and gender-specific thresholds. Method The data comprised mother-reported questionnaire data for 8,371 children in the Norwegian Mother, Father, and Child Cohort Study. Analyses were conducted using binary logistic regression in SPSS to make predictions about risk. Results LD reported at preschool age was associated with excess risk of poor literacy at 8 years with odds ratios ranging from 3.19 to 9.75 dependent on trajectory, persistent LD being the strongest predictor. The odds ratio of transient LD was similar to that of late-onset LD. Gender was not found to play an important role in the association between oral language and literacy, as the gender difference disappeared when gender-specific deficit criterion was used. Conclusion Our study supports the longitudinal association between preschool oral language and school-aged literacy skills and highlights the importance of different LD trajectories across preschool ages in predicting later literacy. Furthermore, practitioners are recommended to consider gender-specific cutoffs in relation to language and literacy measures.

scholarly journals The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era

2021 ◽  
Author(s):  
Georgios Kounidas ◽  
Heather Cruickshank ◽  
Stavroula Kastora ◽  
Stella Sihlabela ◽  
Zosia Miedzybrodzka
Keyword(s):  
Huntington Disease ◽  
Population Based ◽  
Service Planning ◽  
Published Data ◽  
Molecular Testing ◽  
Health Board ◽  
Prevalence Studies ◽  
Gene Expansion ◽  
The North ◽  
Regional Basis

Abstract Background Huntington disease prevalence was first estimated in Grampian, northern Scotland in 1984. Molecular testing has since increased ascertainment. Objective To estimate the prevalence of manifest Huntington disease and identified pre-symptomatic gene expansion carriers (IPGEC) in northern Scotland, and estimate the magnitude of biases in prevalence studies that rely upon routine coding in primary care records. Methods Cases were ascertained using North of Scotland genetic laboratory, clinic, and hospital records. Prevalence was calculated for manifest and IPGEC on 01/07/2016 and 01/01/2020 and compared with local published data. Results The prevalence of manifest Huntington disease in northern Scotland in 2020 was 14.6 (95% CI 14.3–15.3) per 100,000, and of IPGEC was 8.3 (95% CI 7.8–9.2) per 100,000. Whilst the population of northern Scotland decreased by 0.05% between 2016 and 2020, the number of manifest and identified pre-symptomatic gene expansion carriers increased by 7.4% and 23.3%, respectively. Manifest disease in Grampian increased by 45.9% between 1984 and 2020. More women than men had a diagnosis. General Practice coding underestimated symptomatic molecularly confirmed prevalence by 2.2 per 100,000 people. Conclusion Even in an area with previously high ascertainment, there has been a 45.9% increase in manifest Huntington disease over the last 30 years. Within our catchment area, prevalence varies between health board regions with similar community-based services. Such variation in prevalence could have major drug cost and service delivery implications, especially if expensive, complexly administered therapies prove successful. Health services should gather accurate population-based data on a regional basis to inform service planning.

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