Investigator® HDplex (Qiagen) reference population database for forensic use in Argentina

2017 ◽  
Vol 26 ◽  
pp. 91-95 ◽  
Author(s):  
Gustavo Martínez ◽  
Alicia Borosky ◽  
Daniel Corach ◽  
Cintia Llull ◽  
Laura Locarno ◽  
...  
Keyword(s):  
Reference Population ◽  
Population Database

scholarly journals Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Oyediran Akinrinade ◽  
Tiina Heliö ◽  
Ronald H. Lekanne Deprez ◽  
Jan D. H. Jongbloed ◽  
Ludolf G. Boven ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Human Disease ◽  
Disease Gene ◽  
Reference Population ◽  
Population Database ◽  
Missense Variants ◽  
Clinical Diagnostic ◽  
Significant Enrichment ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant sarcomere gene, titin (TTN), as a major human disease gene. Truncating variants of TTN (TTNtv) especially in the A-band region account for 20% of dilated cardiomyopathy (DCM) cases. Much attention has been focused on assessment and interpretation of TTNtv in human disease; however, missense and non-frameshifting insertions/deletions (NFS-INDELs) are difficult to assess and interpret in clinical diagnostic workflow. Targeted sequencing covering all exons of TTN was performed on a cohort of 530 primary DCM patients from three cardiogenetic centres across Europe. Using stringent bioinformatic filtering, twenty-nine and two rare TTN missense and NFS-INDELs variants predicted deleterious were identified in 6.98% and 0.38% of DCM patients, respectively. However, when compared with those identified in the largest available reference population database, no significant enrichment of such variants was identified in DCM patients. Moreover, DCM patients and reference individuals had comparable frequencies of splice-region missense variants with predicted splicing alteration. DCM patients and reference populations had comparable frequencies of rare predicted deleterious TTN missense variants including splice-region missense variants suggesting that these variants are not independently causative for DCM. Hence, these variants should be classified as likely benign in the clinical diagnostic workflow, although a modifier effect cannot be excluded at this stage.

Multivariate consumption profiling (MCP) for intelligent meter systems: a methodology to define categories and levels

2010 ◽  
Vol 10 (5) ◽  
pp. 710-720 ◽  
Author(s):  
J. L. Solanas ◽  
M. R. Cussó
Keyword(s):  
Cluster Analysis ◽  
Factor Analysis ◽  
Multivariate Analysis ◽  
Discriminant Analysis ◽  
Reference Population ◽  
Statistical Analyses ◽  
Conceptual Schema ◽  
Data Variability ◽  
Water Companies ◽  
Analyse Data

Multivariate Consumption Profiling (MCP) is a methodology to analyse the readings made by Intelligent Meter (IM) systems. Even in advanced water companies with well supported IM, full statistical analyses are not performed, since no efficient methods are available to deal with all the data items. Multivariate Analysis has been proposed as a convenient way to synthesise all IM information. MCP uses Factor Analysis, Cluster Analysis and Discriminant Analysis to analyse data variability by categories and levels, in a cyclical improvement process. MCP obtains a conceptual schema of a reference population on a set of classifying tables, one for each category. These tables are quantitative concepts to evaluate consumption, meter sizing, leakage and undermetering for populations and groupings and individual cases. They give structuring items to enhance “traditional” statistics. All the relevant data from each new meter reading can be matched to the classifying tables. A set of indexes is computed and thresholds are used to select those cases with the desired profiles. The paper gives an example of a MCP conceptual schema for five categories, three variables, and five levels, and obtains its classifying tables. It shows the use of case profiles to implement actions in accordance with the operative objectives.

scholarly journals P139 What impact does JIA have on health-related quality of life over time and by gender?

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Andrew Smith ◽  
Bishma Saqib ◽  
Rebecca Lee ◽  
Wendy Thomson ◽  
Lis Cordingley
Keyword(s):  
Quality Of Life ◽  
Health Status ◽  
Child Health ◽  
Reference Population ◽  
Health Related Quality ◽  
Related Quality ◽  
Health Related ◽  
Over Time ◽  
Domain Scores

Abstract Background Juvenile idiopathic arthritis (JIA) is a heterogeneous group of arthritic conditions presenting in children and young people, in which physical limitations and associated complications can have detrimental effects on physical and psychosocial wellbeing. This study aims to investigate the impact of living with JIA on different aspects of health-related quality of life (HRQoL) and to explore how this changes over time, using data from the Childhood Arthritis Prospective Study (CAPS). Methods Longitudinal data collected as part of CAPS were analysed. HRQoL was assessed at baseline, 1 year and 3 years’ post-diagnosis using the Child Health Questionnaire (CHQ), a parent-completed form for children from 5 years of age. The CHQ measures physical, emotional and social components of child health status. Raw domain scores were transformed via algorithm into values ranging from 0-100, with higher scores indicating better health status. Mean (standard deviation) and median (interquartile range) for each domain were determined, both for the full cohort and by gender. Differences between median scores at baseline and 3 years were assessed using the Wilcoxon signed-rank test. Mean scores of each domain were visually compared with a reference population sample of healthy children from the United States. Results 184 participants completed the questionnaire at all 3 time points. At baseline, compared to the reference population, children with JIA scored lower in every domain although scores were closer between the 2 groups at 3 years. Median scores improved over time, the exception being the general health perceptions domain which decreased after baseline. Domains with the greatest improvement were physical functioning,“bodily pain and social-physical. The largest changes occurred from baseline to 1 year. Statistically significant differences between baseline and 3-year scores were found for all domains. Domain scores for male and female participants were very similar at baseline, though scores for male participants indicated slightly better health at 1 and 3 years for both physical and psychosocial domains. Conclusion JIA has significant impact on HRQoL, which improves within 3 years of diagnosis with the greatest improvement occurring within the first year. Physical health domains show greater improvement over time than psychosocial domains, although psychosocial scores were generally higher throughout the study. Male participants tend to score slightly higher than female participants in both physical and psychosocial domains after baseline. Further research should explore measurable patient, age or disease-related drivers of HRQoL. Disclosures A. Smith None. B. Saqib None. R. Lee None. W. Thomson None. L. Cordingley None.

scholarly journals P087 Mortality trends from systemic lupus erythematosus in Cuba: 2001-2014

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Halbert Hernández Negrín
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Health Problem ◽  
Time Trends ◽  
Reference Population ◽  
World Health ◽  
Mortality Data ◽  
Systemic Lupus ◽  
Mortality Trends ◽  
Health Organization

Abstract Background/Aims  There is little research on the mortality of Cuban patients with systemic lupus erythematosus (SLE), with not enough impact to recognize SLE as a health problem in the country. Our aim was to identify time trends and geographic variability in the mortality of Cuban patients with SLE. Methods  Mortality data of decedents over 15 years old were retrieved from the Cuban Ministry of Public Health mortality database, based on International Classification of Disease (ICD), Tenth Revision (ICD-10, code M32). We computed age-standardized mortality rate (ASMR) for each year and province as the estimated number of deaths per million inhabitants and its 95% confidence interval (95% CI) using World Health Organization reference population. The 2001-2014 time trends were analyzed using Jointpoint software. Results  Between 2001 and 2014, 1,054 deaths from SLE were found, mostly women (89.0%), white (54.4%) with a median age of 43 years (interquartile range: 34-53). In 2014 the ASMR caused by SLE per million inhabitants was 14.4 (95% CI: 10.9 to 18.4) in women and 1.3 (95% CI: 0.5 to 3.2) in men. A growing time trend was identified in the ASMR by SLE throughout the period (average annual percentage change [AAPC]: 1.6; 95% CI: 0.6 to 2.6), highest in males (AAPC: 5.6; 95% CI: 1.7 to 9.7) than in females (AAPC: 1.2; 95% CI: 0.3 to 2.0). The highest mortality in women was concentrated in the provinces of Camagüey, Las Tunas and Granma, and in the case of men, in Havana and Ciego de Ávila. Conclusion  The variation in the magnitude of the risk of dying from SLE over time and geographic areas indicates the possible influence of biological, environmental, socioeconomic and health systems factors. The growing trend in SLE mortality in Cuba demands its recognition as an important health problem and immediate actions that help mitigate it. Disclosure  H. Hernández Negrín: None.

scholarly journals Fatigue among Long-Term Breast Cancer Survivors: A Controlled Cross-Sectional Study

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1301
Author(s):  
Saskia W. M. C. Maass ◽  
Daan Brandenbarg ◽  
Liselotte M. Boerman ◽  
Peter F. M. Verhaak ◽  
Geertruida H. de Bock ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Logistic Regression ◽  
General Practitioner ◽  
Cancer Survivors ◽  
Breast Cancer Survivors ◽  
Breast Cancer Diagnosis ◽  
Reference Population ◽  
Cross Sectional ◽  
Symptoms Of Depression

Background: Fatigue is the most common and persistent symptom among women in the first five years after a breast cancer diagnosis. However, long-term prevalence of fatigue, among breast cancer survivors, needs further investigation. Aim: To compare fatigue experienced by long-term breast cancer survivors with that in a reference population and to evaluate the determinants of that fatigue. Design and Setting: A cross-sectional cohort study of 350 breast cancer survivors ≥5 years after diagnosis and a reference population of 350 women matched by age and general practitioner. Method: Fatigue was measured using the Multidimensional Fatigue Inventory (MFI-20), and a sum score of >60 (multidimensional fatigue) was the primary outcome. Logistic regression was applied to compare the prevalence of multidimensional fatigue between the survivor and reference populations, adjusted for body mass index (BMI) and for cardiovascular and psychological variables. Odds ratios (ORs) and 95% confidence intervals (95%CIs) were estimated. Logistic regression was applied to evaluate the determinants of multidimensional fatigue among the survivors. Results: Breast cancer survivors (median 10 years after diagnosis), more often experienced multidimensional fatigue than the reference population (26.6% versus 15.4%; OR, 2.0 [95%CI, 1.4–2.9]), even after adjusting for confounders. The odds of multidimensional fatigue were also higher among survivors with symptoms of depression (32.2% versus 2.7%; OR, 17.0 [95%CI, 7.1–40.5]) or anxiety (41.9% versus 10.1%; OR, 6.4 [95%CI, 3.6–11.4]). Conclusion: One in four breast cancer survivors experience multidimensional fatigue and fatigue occurs more frequently than in women of the same age and general practitioner. This fatigue appears to be associated with symptoms of depression and anxiety.

scholarly journals A Microsatellite Map of Wheat

Genetics ◽  
1998 ◽  
Vol 149 (4) ◽  
pp. 2007-2023 ◽  
Author(s):  
Marion S Röder ◽  
Victor Korzun ◽  
Katja Wendehake ◽  
Jens Plaschke ◽  
Marie-Hélène Tixier ◽  
...  
Keyword(s):  
Bread Wheat ◽  
Reference Population ◽  
Triticum Aestivum L ◽  
Wheat Genome ◽  
D Genome ◽  
B Genome ◽  
Microsatellite Map ◽  
A Genome ◽  
Polymorphic Microsatellite ◽  
Primer Sets

Abstract Hexaploid bread wheat (Triticum aestivum L. em. Thell) is one of the world's most important crop plants and displays a very low level of intraspecific polymorphism. We report the development of highly polymorphic microsatellite markers using procedures optimized for the large wheat genome. The isolation of microsatellite-containing clones from hypomethylated regions of the wheat genome increased the proportion of useful markers almost twofold. The majority (80%) of primer sets developed are genome-specific and detect only a single locus in one of the three genomes of bread wheat (A, B, or D). Only 20% of the markers detect more than one locus. A total of 279 loci amplified by 230 primer sets were placed onto a genetic framework map composed of RFLPs previously mapped in the reference population of the International Triticeae Mapping Initiative (ITMI) Opata 85 × W7984. Sixty-five microsatellites were mapped at a LOD >2.5, and 214 microsatellites were assigned to the most likely intervals. Ninety-three loci were mapped to the A genome, 115 to the B genome, and 71 to the D genome. The markers are randomly distributed along the linkage map, with clustering in several centromeric regions.

scholarly journals Health-related quality of life in ICU survivors—10 years later

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
José G. M. Hofhuis ◽  
Augustinus J. P. Schrijvers ◽  
Tjard Schermer ◽  
Peter E. Spronk
Keyword(s):  
Effect Size ◽  
Reference Population ◽  
Health Related Quality ◽  
Sf 36 ◽  
Icu Discharge ◽  
Related Quality ◽  
Health Related ◽  
Surgical Icu

AbstractMany Intensive Care (ICU) survivors experience long lasting impairments in physical and psychological health as well as social functioning. The objective of our study was to evaluate these effects up to 10 years after ICU discharge. We performed a long-term prospective cohort study in patients admitted for longer than 48 h in a medical-surgical ICU. We evaluated health-related quality of life (HRQOL) before ICU admission using the Short-form-36 (SF-36), at ICU discharge, at hospital discharge and at 1, 2, 5 and 10 years follow up (all by patients). Changes in HRQOL were assessed based on linear mixed modeling. We included a total of 749 patients (from 2000 to 2008). During 10 years 475 (63.4%) patients had died, 125 (16.7%) patients were lost to follow up and 149 (19.9%) patients could be evaluated. The mean scores of four HRQOL dimensions (i.e., physical functioning (p < 0.001; mean 54, SD 32, effect size 0.77, 95% CI [0.54–1.0]), role-physical (p < 0.001; mean 44, SD 47, effect size 0.65, 95% CI [0.41–0.68] general health (p < 0.001; mean 52, SD 27, effect size 0.48; 95% CI 0.25–0.71) and social functioning (p < 0.001; mean 72, SD 32, effect size 0.41, 95% CI [0.19–0.64]) were still lower 10 years after ICU discharge compared with pre-admission levels (n = 149) and with an age reference population. Almost all SF-36 dimensions changed significantly over time from ICU discharge up to 10 years after ICU discharge. Over the 10 year follow up physical functioning of medical-surgical ICU survivors remains impaired compared with their pre-admission values and an age reference population. However, effect sizes showed no significant differences suggesting that surviving patients largely regained their age-specific HRQOL at 10 years.

scholarly journals Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population

Children ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 601
Author(s):  
Kyung-Sun Park
Keyword(s):  
General Population ◽  
Pompe Disease ◽  
Genomic Data ◽  
Japanese Patients ◽  
Population Database ◽  
Genome Database ◽  
Genetic Database ◽  
Pathogenic Variants ◽  
Reference Genome Database ◽  
Real Patients

In this study, two different approaches were applied in the analysis of the GAA gene. One was analyzed based on patients with Pompe disease, and the other was analyzed based on GAA genomic data from unaffected carriers in a general population genetic database. For this, GAA variants in Korean and Japanese patients reported in previous studies and in patients reported in the Pompe disease GAA variant database were analyzed as a model. In addition, GAA variants in the Korean Reference Genome Database (KRGDB), the Japanese Multi Omics Reference Panel (jMorp), and the Genome Aggregation Database (gnomAD) were analyzed. Overall, approximately 50% of the pathogenic or likely pathogenic variants (PLPVs) found in unaffected carriers were also found in real patients with Pompe disease (Koreans, 57.1%; Japanese, 46.2%). In addition, there was a moderate positive correlation (Spearman’s correlation coefficient of 0.45–0.69) between the proportion of certain PLPVs in patients and the minor allele frequency of their variants in a general population database. Based on the analysis of general population databases, the total carrier frequency for Pompe disease in Koreans and Japanese was estimated to be 1.7% and 0.7%, respectively, and the predicted genetic prevalence was 1:13,657 and 1:78,013, respectively.

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