scholarly journals Effect of DNA Profile Size, Reference Population Database, and Parents Availability on Parentage Testing in Consanguineous and Endogamous Populations: The Lebanese Case

2018 ◽  
Vol 09 (04) ◽  
Author(s):  
Ansar El Andari ◽  
Ayman Daouk ◽  
Issam Mansour
2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Oyediran Akinrinade ◽  
Tiina Heliö ◽  
Ronald H. Lekanne Deprez ◽  
Jan D. H. Jongbloed ◽  
Ludolf G. Boven ◽  
...  

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.


2014 ◽  
Vol 54 (6) ◽  
pp. 487-493 ◽  
Author(s):  
Christopher D. Steele ◽  
David J. Balding

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

Praxis ◽  
2016 ◽  
Vol 105 (2) ◽  
pp. 79-84
Author(s):  
Cordula Haas ◽  
Adelgunde Kratzer
Keyword(s):  

Zusammenfassung. Bis anhin erfolgt die Spurenartbestimmung von Körpersekreten mit enzymatischen und immunologischen Tests, die aber zum Teil nicht sehr spezifisch sind. mRNA-Profiling ist eine vielversprechende neue Methode zum Nachweis von Körperflüssigkeiten (vor allem Blut, Speichel, Sperma, Vaginalsekret und Menstrualblut), bei der die Expression sekretspezifischer Proteine untersucht wird. Mit einer RNA/DNA Co-Analyse aus derselben Probe kann sowohl das Körpersekret identifiziert werden, als auch mittels DNA-Analyse die Probe einer Person zugeordnet werden. Diese Methoden und Ergebnisse werden anhand eines Kriminalfalls erklärt. In der Schweizerischen DNA-Datenbank werden die DNA-Profile von Spuren und tatverdächtigen Personen erfasst und verglichen. Eine Übereinstimmung der DNA-Profile ist ein belastendes Beweisstück gegen den Tatverdächtigen, muss aber vom Gericht zusammen mit anderen Untersuchungsergebnissen abschliessend beurteilt werden.


2010 ◽  
Vol 10 (5) ◽  
pp. 710-720 ◽  
Author(s):  
J. L. Solanas ◽  
M. R. Cussó

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.


Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Andrew Smith ◽  
Bishma Saqib ◽  
Rebecca Lee ◽  
Wendy Thomson ◽  
Lis Cordingley

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.


2021 ◽  
Vol 11 (4) ◽  
pp. 1943
Author(s):  
Joo-Young Kim ◽  
Ju Yeon Jung ◽  
Da-Hye Kim ◽  
Seohyun Moon ◽  
Won-Hae Lee ◽  
...  

Analytical techniques such as DNA profiling are widely used in various fields, including forensic science, and novel technologies such as direct polymerase chain reaction (PCR) amplification are continuously being developed in order to acquire DNA profiles efficiently. However, non-specific amplification may occur depending on the quality of the crime scene evidence and amplification methods employed. In particular, the ski-slope effect observed in direct PCR amplification has led to inaccurate interpretations of the DNA profile results. In this study, we aimed to reduce the ski-slope effect by using dimethyl sulfoxide (DMSO) in direct PCR. We confirmed that DMSO (3.75%, v/v) increased the amplification yield of large-sized DNA sequences more than that of small-sized ones. Using 50 Korean buccal samples, we further demonstrated that DMSO reduced the ski-slope effect in direct PCR. These results suggest that the experimental method developed in this study is suitable for direct PCR and may help to successfully obtain DNA profiles from various types of evidence at crime scenes.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Halbert Hernández Negrín

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.


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 ◽  
...  

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.


Genetics ◽  
1998 ◽  
Vol 149 (4) ◽  
pp. 2007-2023 ◽  
Author(s):  
Marion S Röder ◽  
Victor Korzun ◽  
Katja Wendehake ◽  
Jens Plaschke ◽  
Marie-Hélène Tixier ◽  
...  

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.


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