The Pediatric Quality of Life Inventory™ (PedsQL™) family impact module: reliability and validity of the Brazilian version

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Measurement properties of the Brazilian version of the Pediatric Quality of Life Inventory (PedsQL™) cancer module scale

This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

Psychometric properties of the Brazilian version of the Early Childhood Oral Health Impact Scale (B-ECOHIS)

<p>Abstract</p> <p>Background</p> <p>Oral disorders can have a negative impact on the functional, social and psychological wellbeing of young children and their families and cause pain/discomfort for the child. Oral health-related quality of life (OHRQoL) has emerged as an important health outcome in clinical trials and healthcare research. The Early Childhood Oral Health Impact Scale (ECOHIS) is a proxy measure of children's OHRQoL designed to assess the negative impact of oral disorders on the quality of life of preschool children. The objective of this study was to evaluate the psychometric properties of the Brazilian version of the ECOHIS (B-ECOHIS).</p> <p>Methods</p> <p>This investigation was carried out in preliminary and field studies. The preliminary study comprised a cross-sectional study carried out in the city of Petropolis, Brazil. A sample of 150 children from two to five years of age was recruited at a public hospital. In the field study, an epidemiological survey was carried out in public and private preschools of Belo Horizonte, Brazil. The B-ECOHIS was answered by 1643 parents/caregivers of five-year-old male and female preschool children. In both phases, oral examinations were performed by a single previously calibrated dentist. Reliability was determined through test-retest reliability and internal consistency. Validity was determined through convergent and discriminant validities. The correlation between the scores obtained on the child and family impact sections was assessed.</p> <p>Results</p> <p>In the preliminary (P) and field (F) study, test-retest reliability correlation values were 0.98 and 0.99 for the child impact section and 0.97 and 0.99 for the family impact section, respectively. The B-ECOHIS demonstrated internal consistency: child impact section (P: α = 0.74; F: α = 0.80) and family impact section (P: α = 0.59; F: α = 0.76). The correlation between the scores obtained on the child and family impact sections was statistically significant (P: r_s= 0.54; F: r_s= 0.62; p ≤ 0.001). In both phases of the study, B-ECOHIS scores were significantly associated with the decayed, missing and filled teeth index, decayed teeth and discolored upper anterior teeth (p < 0.05).</p> <p>Conclusion</p> <p>The B-ECOHIS proved reliable and valid for assessing the negative impact of oral disorders on the quality of life of preschool children.</p

Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning

External Quality Assessment for Zika Virus Molecular Diagnostic Testing, Brazil

We conducted an external quality assessment of Zika virus molecular diagnostic tests in Brazil using a new Zika virus standard. Of 15 laboratories, 73% showed limited sensitivity and specificity. Viral load estimates varied significantly. Continuous quality assurance is needed to adequately estimate risk for Zika virus-associated disease and determine patient care

Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multi-center study.

Complex karyotype (CK) identified by chromosome-banding analysis (CBA) has shown prognostic value in chronic lymphocytic leukemia (CLL). Genomic arrays offer high-resolution genome-wide detection of copy-number alterations (CNAs) and could therefore be well equipped to detect the presence of a CK. Current knowledge on genomic arrays in CLL is based on outcomes of single center studies, in which different cutoffs for CNA calling were used. To further determine the clinical utility of genomic arrays for CNA assessment in CLL diagnostics, we retrospectively analyzed 2293 arrays from 13 diagnostic laboratories according to established standards. CNAs were found outside regions captured by CLL FISH probes in 34% of patients, and several of them including gains of 8q, deletions of 9p and 18p (p&lt;0.01) were linked to poor outcome after correction for multiple testing. Patients (n=972) could be divided in three distinct prognostic subgroups based on the number of CNAs. Only high genomic complexity (high-GC), defined as ≥5 CNAs emerged as an independent adverse prognosticator on multivariable analysis for time to first treatment (Hazard ratio: 2.15, 95% CI: 1.36-3.41; p=0.001) and overall survival (Hazard ratio: 2.54, 95% CI: 1.54-4.17; p&lt;0.001; n=528). Lowering the size cutoff to 1 Mb in 647 patients did not significantly improve risk assessment. Genomic arrays detected more chromosomal abnormalities and performed at least as well in terms of risk stratification compared to simultaneous chromosome banding analysis as determined in 122 patients. Our findings highlight genomic array as an accurate tool for CLL risk stratification