scholarly journals Increased Female MS Incidence and Differences in Gender-Specific Risk in Medium- and High-Risk Regions in Finland from 1981–2010

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Markus Holmberg ◽  
Annukka Murtonen ◽  
Irina Elovaara ◽  
Marja-Liisa Sumelahti
Keyword(s):  
High Risk ◽  
Regional Differences ◽  
Population Based ◽  
Case Control ◽  
Incidence Rates ◽  
Steady Increase ◽  
Case Control Studies ◽  
General Increase ◽  
Gender Specific

Background. MS incidence has increased among females, suggesting the presence of environmental effect.Object. Regional differences and temporal changes in gender-specific MS incidence were studied in Finland.Methods. Cases from Jan 1, 1981 to Dec 31, 2010 in Pirkanmaa, Seinäjoki and Vaasa districts were included. The standardized incidence rates (SIR), incidences per 105person years with 95% confidence intervals (CI), and female-to-male ratios (F/M) were determined by district.Results. 1617 cases were included. Compared to Pirkanmaa, the MS risk was 1.9-fold (95% CI: 1.7–2.0) greater in Seinäjoki and 1.2-fold (95% CI: 1.1–1.4) in Vaasa, and the risk was high for both genders. The incidence trend stabilized in Seinäjoki and Vaasa, accompanied by an increase in the F/M ratio. A steady increase in Pirkanmaa was accompanied by a high F/M ratio.Conclusion. A high female preponderance accompanied a general increase in incidence since the 1990s, suggesting the influence of environmental factors. In high-risk districts, increased MS risk prevailed in both genders. High risk reflects both genetic and environmental effects. These effects may be shared with autoimmune diseases such as type 1 diabetes mellitus; the incidence of which follows MS in Finland. Population-based case-control studies are needed to identify these factor effects.

Estimating Incidence Rates from Population-Based Case-Control Studies in the Presence of Nonrespondents

2002 ◽  
Vol 44 (2) ◽  
pp. 227-239 ◽  
Author(s):  
Patrick G. Arbogast ◽  
D.Y. Lin ◽  
David S. Siscovick ◽  
Stephen M. Schwartz
Keyword(s):  
Population Based ◽  
Case Control ◽  
Incidence Rates ◽  
Case Control Studies

Differentiation of endemic areas by incidence rates of tick-borne infectious diseases as the basis for choosing prevention strategy and tactics

2019 ◽  
pp. 56-61
Author(s):  
N.V. Rudakov ◽  
N.A. Penyevskaya ◽  
D.A. Saveliev ◽  
S.A. Rudakova ◽  
C.V. Shtrek ◽  
...  
Keyword(s):  
High Risk ◽  
Infectious Diseases ◽  
Population Based ◽  
Preventive Therapy ◽  
Incidence Rates ◽  
Prevention Strategy ◽  
Individual Risk ◽  
The Individual ◽  
Integral Assessment ◽  
Very High

Research objective. Differentiation of natural focal areas of Western Siberia by integral incidence rates of tick-borne infectious diseases for determination of the strategy and tactics of their comprehensive prevention. Materials and methods. A retrospective analysis of official statistics for the period 2002-2018 for eight sub-federal units in the context of administrative territories was carried out. The criteria of differentiation were determined by means of three evaluation scales, including long-term mean rates of tick-borne encephalitis, tick-borne borreliosis, and Siberian tick-borne typhus. As a scale gradation tool, we used the number of sample elements between the confidence boundaries of the median. The integral assessment was carried out by the sum of points corresponding to the incidence rates for each of the analyzed infections. Results. The areas of low, medium, above average, high and very high risk of tick-borne infectious diseases were determined. Recommendations on the choice of prevention strategy and tactics were given. In areas of very high and high incidence rates, a combination of population-based and individual prevention strategies is preferable while in other areas a combination of high-risk and individual strategies is recommended. Discussion. Epidemiologic zoning should be the basis of a risk-based approach to determining optimal volumes and directions of preventive measures against natural focal infections. It is necessary to improve the means and methods of determining the individual risk of getting infected and developing tick-borne infectious diseases in case of bites, in view of mixed infection of vectors, as well as methods of post-exposure disease prevention (preventive therapy).

scholarly journals Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1378
Author(s):  
Tú Nguyen-Dumont ◽  
James G. Dowty ◽  
Jason A. Steen ◽  
Anne-Laure Renault ◽  
Fleur Hammet ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cumulative Risk ◽  
Population Based ◽  
Case Control ◽  
Cancer Information ◽  
Case Control Studies ◽  
Breast Cancer Family ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Control Family

Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein-truncating variant CHEK2 c.1100delC dominates this estimate. There have been no formal estimates of age-specific cumulative risk of breast cancer for all CHEK2 pathogenic (including likely pathogenic) variants combined. We conducted a population-based case-control-family study of pathogenic CHEK2 variants (26 families, 1071 relatives) and estimated the age-specific cumulative risk of breast cancer using segregation analysis. The estimated hazard ratio for carriers of pathogenic CHEK2 variants (combined) was 4.9 (95% CI 2.5–9.5) relative to non-carriers. The HR for carriers of the CHEK2 c.1100delC variant was estimated to be 3.5 (95% CI 1.02–11.6) and the HR for carriers of all other CHEK2 variants combined was estimated to be 5.7 (95% CI 2.5–12.9). The age-specific cumulative risk of breast cancer was estimated to be 18% (95% CI 11–30%) and 33% (95% CI 21–48%) to age 60 and 80 years, respectively. These findings provide important information for the clinical management of breast cancer risk for women carrying pathogenic variants in CHEK2.

scholarly journals Dissecting autism and schizophrenia through neuroimaging genomics

Brain ◽  
2021 ◽  
Author(s):  
Clara A Moreau ◽  
Armin Raznahan ◽  
Pierre Bellec ◽  
Mallar Chakravarty ◽  
Paul M Thompson ◽  
...  
Keyword(s):  
High Risk ◽  
Psychiatric Symptoms ◽  
Clinical Manifestations ◽  
Autism Spectrum ◽  
Case Control ◽  
Effect Sizes ◽  
Case Control Studies ◽  
Top Down ◽  
Bottom Up ◽  
Genomic Variants

Abstract Neuroimaging genomic studies of autism spectrum disorder and schizophrenia have mainly adopted a ‘top-down’ approach, starting with the behavioural diagnosis, and moving down to intermediate brain phenotypes and underlying genetic factors. Advances in imaging and genomics have been successfully applied to increasingly large case-control studies. As opposed to diagnostic-first approaches, the bottom-up strategy starts at the level of molecular factors enabling the study of mechanisms related to biological risk, irrespective of diagnoses or clinical manifestations. The latter strategy has emerged from questions raised by top-down studies: Why are mutations and brain phenotypes over-represented in individuals with a psychiatric diagnosis? Are they related to core symptoms of the disease or to comorbidities? Why are mutations and brain phenotypes associated with several psychiatric diagnoses? Do they impact a single dimension contributing to all diagnoses? In the review, we aimed at summarizing imaging genomic findings in autism and schizophrenia as well as neuropsychiatric variants associated with these conditions. Top-down studies of autism and schizophrenia identified patterns of neuroimaging alterations with small effect-sizes and an extreme polygenic architecture. Genomic variants and neuroimaging patterns are shared across diagnostic categories suggesting pleiotropic mechanisms at the molecular and brain network levels. Although the field is gaining traction; characterizing increasingly reproducible results, it is unlikely that top-down approaches alone will be able to disentangle mechanisms involved in autism or schizophrenia. In stark contrast with top-down approaches, bottom-up studies showed that the effect-sizes of high-risk neuropsychiatric mutations are equally large for neuroimaging and behavioural traits. Low specificity has been perplexing with studies showing that broad classes of genomic variants affect a similar range of behavioral and cognitive dimensions, which may be consistent with the highly polygenic architecture of psychiatric conditions. The surprisingly discordant effect sizes observed between genetic and diagnostic first approaches underscore the necessity to decompose the heterogeneity hindering case-control studies in idiopathic conditions. We propose a systematic investigation across a broad spectrum of neuropsychiatric variants to identify putative latent dimensions underlying idiopathic conditions. Gene expression data on temporal, spatial and cell type organization in the brain have also considerable potential for parsing the mechanisms contributing to these dimensions phenotypes. While large neuroimaging genomic datasets are now available in unselected populations, there is an urgent need for data on individuals with a range of psychiatric symptoms and high-risk genomic variants. Such efforts together with more standardized methods will improve mechanistically informed predictive modeling for diagnosis and clinical outcomes.

scholarly journals Impact of the introduction of pneumococcal conjugate vaccination on pneumonia in The Gambia: population-based surveillance and case-control studies

2017 ◽  
Vol 17 (9) ◽  
pp. 965-973 ◽  
Author(s):  
Grant A Mackenzie ◽  
Philip C Hill ◽  
Shah M Sahito ◽  
David J Jeffries ◽  
Ilias Hossain ◽  
...  
Keyword(s):  
Population Based ◽  
Case Control ◽  
The Gambia ◽  
Case Control Studies ◽  
Conjugate Vaccination
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