ORCID Profile
0000-0001-8363-7207
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Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 12-2019
DOI: 10.1212/NXG.0000000000000378
Abstract: To evaluate a new tool to aid interpretation of copy number variants (CNVs) in in iduals with neurodevelopmental disabilities. Critical exon indexing (CEI) was used to identify genes with critical exons (CEGs) from clinically reported CNVs, which may contribute to neurodevelopmental disorders (NDDs). The 742 pathogenic CNVs and 1,363 variants of unknown significance (VUS) identified by chromosomal microarray analysis in 5,487 in iduals with NDDs were subjected to CEI to identify CEGs. CEGs identified in a subsequent random series of VUS were evaluated for relevance to CNV interpretation. CEI identified a total of 2,492 unique CEGs in pathogenic CNVs and 953 in VUS compared with 259 CEGs in 6,965 CNVs from 873 controls. These differences are highly significant ( p 0.00001) whether compared as frequency, average, or normalized by CNV size. Twenty-one percent of VUS CEGs were not represented in Online Mendelian Inheritance in Man, highlighting limitations of existing resources for identifying potentially impactful genes within CNVs. CEGs were highly correlated with other indices and known pathways of relevance. Separately, 136 random VUS reports were reevaluated, and 76% of CEGs had not been commented on. In multiple cases, further investigation yielded additional relevant literature aiding interpretation. As one specific ex le, we discuss GTF2I as a CEG, which likely alters interpretation of several reported duplication VUS in the Williams-Beuren region. Application of CEI to CNVs in in iduals with NDDs can identify genes of potential clinical relevance, aid laboratories in effectively searching the clinical literature, and support the clinical reporting of poorly annotated VUS.
Publisher: BMJ
Date: 02-2020
DOI: 10.1136/BMJOPEN-2019-034523
Abstract: This investigation expected to validate the psychometric properties of the modified seven-item Kessler psychological distress scale (K7) for measuring psychological distress in healthy rural population of Bangladesh. Cross-sectional study. Narail district, Bangladesh. A random s le of 300 adults of age 18–90 years were recruited. Face-to-face interviews were conducted between July and August 2018 using an Android phone installed with a mobile data collection application known as CommCare. Validation of the K7 was the major outcome. Sociodemographic factors were measured to assess for Differential Item Functioning to check if the tool functions equally in different factors. Rasch analysis was carried out for the validation of the K7 scale in the healthy rural population of Bangladesh. RUMM2030 was used for the analyses. Results showed good overall fit, as indicated by a non-significant item-trait interaction (χ 2 =44.54, df=28, p=0.0245) compared with a Bonferroni adjusted p value of 0.007. Both item fit (mean=0.30, SD 1.22) and person fit residuals (mean=–0.18, SD 0.85) showed perfect fit. Reliability was very good as indicated by a Person Separation Index=0.85 and Cronbach’s alpha=0.89. All in idual items were ordered thresholds. The K7 scale showed adequate reliability, unidimensionality and was free from local dependency. The K7 scale also showed similar functioning for adults and older adults, males and females, no education and any level of education, and at least some financial instability versus no financial instability. Validation of K7 scale confirmed that the tool is suitable for measuring psychological distress among the rural Bangladeshi population. Further research should validate the K7 scale in different rural settings in Bangladesh to determine a valid cut-off score for assessment of severity levels of psychological distress. The K7 scale should also be tested in other developing countries where sociodemographic characteristics are similar to those of Bangladesh.
Publisher: Springer Science and Business Media LLC
Date: 13-08-2019
Publisher: Springer Science and Business Media LLC
Date: 05-04-2019
Publisher: BMJ
Date: 06-2018
Location: Bangladesh
No related grants have been discovered for Mohammed Uddin.