Monitoring Standards for Molecular Genetic Testing in the United Kingdom, The Netherlands, and Ireland

2006 ◽  
Vol 10 (3) ◽  
pp. 147-156 ◽  
Author(s):  
Simon C. Ramsden ◽  
Zandra Deans ◽  
David O. Robinson ◽  
Roger Mountford ◽  
Erik A. Sistermans ◽  
...  
Keyword(s):  
United Kingdom ◽  
Genetic Testing ◽  
The Netherlands ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
The United Kingdom

scholarly journals A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

2014 ◽  
Vol 23 (1) ◽  
pp. 29-33 ◽  
Author(s):  
Stephanie S Weinreich ◽  
Astrid Bosma ◽  
Lidewij Henneman ◽  
Tessel Rigter ◽  
Carla MJ Spruijt ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Genetic Testing ◽  
The Netherlands ◽  
Molecular Genetic ◽  
Molecular Genetic Testing

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

2000 ◽  
Vol 57 (2) ◽  
pp. 116-124 ◽  
Author(s):  
M Paola Lombardi ◽  
Egbert Jw Redeker ◽  
Joep C Defesche ◽  
Sylvia Wa Kamerling ◽  
Mieke D Trip ◽  
...  
Keyword(s):  
Genetic Testing ◽  
The Netherlands ◽  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Molecular Genetic ◽  
Ldl Receptor ◽  
Gene Mutations ◽  
Molecular Genetic Testing

scholarly journals Test–retest reliability of the EQ-5D-5L and the reworded QOLIBRI-OS in the general population of Italy, the Netherlands, and the United Kingdom

2021 ◽  
Author(s):  
Di Long ◽  
Suzanne Polinder ◽  
Gouke J. Bonsel ◽  
Juanita A. Haagsma
Keyword(s):  
United Kingdom ◽  
General Population ◽  
The Netherlands ◽  
Web Based ◽  
Retest Reliability ◽  
The United Kingdom ◽  
Sum Score ◽  
Summary Index ◽  
Test Retest Reliability ◽  
Eq Vas

Abstract Purpose To assess the test–retest reliability of the EQ-5D-5L and the reworded Quality of Life After Traumatic Brain Injury Overall Scale (QOLIBRI-OS) for the general population of Italy, the Netherlands, and the United Kingdom (UK). Methods The sample contains 1864 members of the general population (aged 18–75 years) of Italy, the Netherlands, and the UK who completed a web-based questionnaire at two consecutive time points. The survey included items on gender, age, level of education, occupational status, household annual income, chronic health status, and the EQ-5D-5L and reworded QOLIBRI-OS instrument. Test–retest reliability of the EQ-5D-5L dimensions, EQ-5D-5L summary index, EQ VAS, reworded QOLIBRI-OS dimensions and reworded QOLIBRI-OS level sum score was examined by Gwet’s Agreement Coefficient (Gwet’s AC) and Intraclass Correlation Coefficient (ICC). Results Gwet’s AC ranged from 0.64 to 0.97 for EQ-5D-5L dimensions. The ICC ranged from 0.73 to 0.84 for the EQ-5D-5L summary index and 0.61 to 0.68 for EQ VAS in the three countries. Gwet’s AC ranged from 0.35 to 0.55 for reworded QOLIBRI-OS dimensions in the three countries. The ICC ranged from 0.69 to 0.77 for reworded QOLIBRI-OS level sum score. Conclusion Test–retest reliability of the EQ-5D-5L administered via a web-based questionnaire was substantial to almost perfect for the EQ-5D-5L dimensions, good for EQ-5D-5L summary index, and moderate for the EQ VAS. However, test–retest reliability was less satisfactory for the reworded QOLIBRI-OS. This indicates that the web-based EQ-5D-5L is a reliable instrument for the general population, but further research of the reworded QOLIBRI-OS is required.

scholarly journals Corrigendum to ‘Responses to an acellular pertussis booster vaccination in children, adolescents, and young and older adults: A collaborative study in Finland, the Netherlands, and the United Kingdom’

EBioMedicine ◽  
2021 ◽  
Vol 68 ◽  
pp. 103420
Author(s):  
Pauline Versteegen ◽  
Marta Valente Pinto ◽  
Alex M. Barkoff ◽  
Pieter G.M. van Gageldonk ◽  
Jan van de Kassteele ◽  
...  
Keyword(s):  
Older Adults ◽  
United Kingdom ◽  
The Netherlands ◽  
Collaborative Study ◽  
Booster Vaccination ◽  
The United Kingdom

scholarly journals Diagnosing Paraproteinemic Keratopathy: A Case Report

2021 ◽  
pp. 337-343
Author(s):  
Eugenie Mok ◽  
Ka Wai Kam ◽  
Anthony J. Aldave ◽  
Alvin L. Young
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Serum Protein ◽  
Molecular Genetic ◽  
Anterior Segment ◽  
Protein Electrophoresis ◽  
Serum Protein Electrophoresis ◽  
Optical Coherence ◽  
Molecular Genetic Testing ◽  
Corneal Opacities

A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (<i>TGFBI</i>) and collagen type XVII alpha 1 gene (<i>COL17A1</i>). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis.

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