Some Comments on Mapping from Disease-Specific to Generic Health-Related Quality-of-Life Scales

AbstractAn article by Lu et al. in this issue of Value in Health addresses the mapping of treatment or group differences in disease-specific measures (DSMs) of health-related quality of life onto differences in generic health-related quality-of-life scores, with special emphasis on how the mapping is affected by the reliability of the DSM. In the proposed mapping, a factor analytic model defines a conversion factor between the scores as the ratio of factor loadings. Hence, the mapping applies to convert true underlying scales and has desirable properties facilitating the alignment of instruments and understanding their relationship in a coherent manner. It is important to note, however, that when DSM means or differences in mean DSMs are estimated, their mapping is still of a measurement error–prone predictor, and the correct conversion coefficient is the true mapping multiplied by the reliability of the DSM in the relevant sample. In addition, the proposed strategy for estimating the factor analytic mapping in practice requires assumptions that may not hold. We discuss these assumptions and how they may be the reason we obtain disparate estimates of the mapping factor in an application of the proposed methods to groups of patients

Gender differences in health-related quality-of-life are partly explained by sociodemographic and socioeconomic variation between adult men and women in the US: evidence from four US nationally representative data sets

The purpose of this study was to describe gender differences in self-reported health-related quality-of-life (HRQoL) and to examine whether differences are explained by sociodemographic and socioeconomic status (SES) differentials between men and women. Data were from four US nationally representative surveys: US Valuation of the EuroQol EQ-5D Health States Survey (USVEQ), Medical Expenditure Panel Survey (MEPS), National Health Measurement Study (NHMS) and Joint Canada/US Survey of Health (JCUSH). Gender differences were estimated with and without adjustment for sociodemographic and SES indicators using regression within and across data sets with SF-6D, EQ-5D, HUI2, HUI3 and QWB-SA scores as outcomes. Women have lower HRQoL scores than men on all indexes prior to adjustment. Adjusting for age, race, marital status, education and income reduced but did not remove the gender differences, except with HUI3. Adjusting for marital status or income had the largest impact on estimated gender differences. There are clear gender differences in HRQoL in the United States. These differences are partly explained by sociodemographic and SES differentials

The relationship of individual comorbid chronic conditions to diabetes care quality.

ObjectiveMultimorbidity affects 26 million persons with diabetes, and care for comorbid chronic conditions may impact diabetes care quality. The aim of this study was to determine which chronic conditions were related to lack of achievement or achievement of diabetes care quality goals to determine potential targets for future interventions.Research design and methodsThis is an exploratory retrospective analysis of electronic health record data for 23 430 adults, aged 18-75, with diabetes who were seen at seven Midwestern US health systems. The main outcome measures were achievement of six diabetes quality metrics in the reporting year, 2011 (glycated haemoglobin (HbA1c) control and testing, low-density lipoprotein control and testing, blood pressure control, kidney testing). Explanatory variables were 62 chronic condition indicators. Analyses were adjusted for baseline patient sociodemographic and healthcare utilization factors.ResultsThe 62 chronic conditions varied in their relationships to diabetes care goal achievement for specific care goals. Congestive heart failure was related to lack of achievement of cholesterol management goals. Obesity was related to lack of HbA1c and BP control. Mental health conditions were related to both lack of achievement and achievement of different care goals. Three conditions were related to lack of cholesterol testing, including congestive heart failure and substance-use disorders. Of 17 conditions related to achieving control goals, 16 were related to achieving HbA1c control. One-half of the comorbid conditions did not predict diabetes care quality.ConclusionsFuture interventions could target patients at risk for not achieving diabetes care for specific care goals based on their individual comorbidities

Nutritional status of Palestinian preschoolers in the Gaza Strip: a cross-sectional study

<p>Abstract</p> <p>Background</p> <p>The authors examined factors associated with nutritional resilience/vulnerability among preschoolers in the Gaza Strip in 2007, where political violence and deprivation are widespread.</p> <p>Methods</p> <p>This cross-sectional study was carried out in 2007 using random sampling of kindergartens in order to select 350 preschoolers. Binary logistic regression was used to compare resilient (adequate nutrition) and vulnerable (stunted) groups with those with moderate nutrition.</p> <p>Results</p> <p>Approximately 37% of the subjects demonstrated nutritional resilience and 15% were vulnerable. Factors associated with nutritional resilience were child younger age, normal birth weight, actively hand- or spoon-feeding when the child was below two years, and residential stability in the past two years. The only factor associated with nutritional vulnerability was lower total score on the mother's General Health Questionnaire, which we interpret as a marker of maternal mental health.</p> <p>Conclusions</p> <p>Children with low-birth weight and older children had worse nutritional resiliency outcomes. Further, poorer outcomes for children were associated with lower maternal mental health status, as well as increased family residential instability. Our results add to the large literature on the pervasive effects of violence and instability on children and underscore the need for resources for early intervention and for the urgent resolution of the Palestinian and other armed conflicts.</p

NIPTmer : rapid k-mer-based software package for detection of fetal aneuploidies

Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessible. We have developed a novel software package for detection of fetal aneuploidies from next-generation low-coverage whole genome sequencing data. Our tool - NIPTmer - is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data, and applying linear regression model on the counts. Additionally, the filtering process used for k-mer list creation allows one to take into account the genetic variance in a specific sample, thus reducing the source of uncertainty. The processing time of one sample is less than 10 CPU-minutes on a high-end workstation. NIPTmer was validated on a cohort of 583 NIPT samples and it correctly predicted 37 non-mosaic fetal aneuploidies. NIPTmer has the potential to reduce significantly the time and complexity of NIPT post-sequencing analysis compared to mapping-based methods. For non-commercial users the software package is freely available at http://bioinfo.ut.ee/NIPTMer/.Peer reviewe

Haplotype Phasing and Inheritance of Copy Number Variants in Nuclear Families

DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease susceptibility. A number of CNVs overlapping with genes have been shown to confer risk to a variety of human diseases thus highlighting the relevance of addressing the variability of CNVs at a higher resolution. So far, it has not been possible to deterministically infer the allelic composition of different haplotypes present within the CNV regions. We have developed a novel computational method, called PiCNV, which enables to resolve the haplotype sequence composition within CNV regions in nuclear families based on SNP genotyping microarray data. The algorithm allows to i) phase normal and CNV-carrying haplotypes in the copy number variable regions, ii) resolve the allelic copies of rearranged DNA sequence within the haplotypes and iii) infer the heritability of identified haplotypes in trios or larger nuclear families. To our knowledge this is the first program available that can deterministically phase null, mono-, di-, tri- and tetraploid genotypes in CNV loci. We applied our method to study the composition and inheritance of haplotypes in CNV regions of 30 HapMap Yoruban trios and 34 Estonian families. For 93.6% of the CNV loci, PiCNV enabled to unambiguously phase normal and CNV-carrying haplotypes and follow their transmission in the corresponding families. Furthermore, allelic composition analysis identified the co-occurrence of alternative allelic copies within 66.7% of haplotypes carrying copy number gains. We also observed less frequent transmission of CNV-carrying haplotypes from parents to children compared to normal haplotypes and identified an emergence of several de novo deletions and duplications in the offspring.Peer reviewe

Measuring health-related quality of life in population-based studies of coronary heart disease: comparing six generic indexes and a disease-specific proxy score

To compare HRQoL differences with CHD in generic indexes and a proxy CVD-specific score in a nationally representative sample of U.S. adults. The National Health Measurement Study, a cross-sectional random-digit-dialed telephone survey of adults aged 35–89, administered the EQ-5D, QWB-SA, HUI2, HUI3, SF-36v2™ (yielding PCS, MCS, and SF-6D), and HALex. Analyses compared 3,350 without CHD (group 1), 265 with CHD not taking chest pain medication (group 2), and 218 with CHD currently taking chest pain medication (group 3), with and without adjustment for demographic variables and comorbidities. Data on 154 patients from heart failure clinics were used to construct a proxy score utilizing generic items probing CVD symptoms. Mean scores differed between CHD groups for all indexes with and without adjustment (P &lt; 0.0001 for all except MCS P = 0.018). Unadjusted group 3 versus 1 differences were about three times larger than for group 2 versus 1. Standardized differences for the proxy score were similar to those for generic indexes, and were about 1.0 for all except MCS for group 3 versus 1. Generic indexes capture differences in HRQoL in population-based studies of CHD similarly to a score constructed from questions probing CVD-specific symptoms