Background: Red cell distribution width (RDW) is a marker of iron-deficient anaemia that can also assist differentiation of other anaemias. RDW also has been suggested as an effective marker for earlier anaemia detection. The RDW-anaemia relationship was investigated in cross-sectional community patient data, and the capacity of RDW to predict the diagnostic value of second tier anaemia markers assessed.
Methods: Routine and second tier assay data were provided by the laboratory Sullivan Nicolaides Pathology. The cohort was divided into male and female groups stratified by age, and correlation analyses assessed associations of RDW to haemoglobin and ferritin. Analysis of covariance (ANCOVA) was performed for both routine and second tier markers to investigate their significance for RDW prediction.
Results: RDW had statistically significant negative correlation with haemoglobin for both sexes and age ranges (p<0.01). The RDW relationship with serum ferritin was non-linear, representing two populations. ANCOVA showed categorical ferritin as a significant RDW predictor for younger females, with vitamin B12 a significant RDW predictor for older men. Haemoglobin, mean corpuscular haemoglobin (MCH) and second tier iron markers (e.g., transferrin) were significant RDW predictors for both sexes and ages investigated. An individual longitudinal female case study showed RDW as very sensitive to haemoglobin decrease, with ferritin not as responsive.
Conclusions: RDW had a significant negative association with haemoglobin in cross-sectional community patient data. ANCOVA showed ferritin as a significant RDW predictor for younger females only. This study confirms the utility of RDW as a marker for early anaemia detection, and useful to accelerated diagnoses of anaemia aetiology.
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http://dx.doi.org/10.1515/dx-2015-0010 | DOI Listing |
Disaster Med Public Health Prep
January 2025
Department of Neurosurgery, Shanghai East Hospital, Tongji University School of Medicine, Shanghai200120, China.
Objectives: Compared with first-tier cities in China that are of abundant funds and resources like legions of high-level hospitals, the degree of nurses' disaster nursing preparedness in non-first-tier cities (inland) is relatively lower. For example, nurses' knowledge reserve of specific disasters is not comprehensive enough. And nurses are diffident when it comes to the skills of handling disaster rescue.
View Article and Find Full Text PDFClin Genet
January 2025
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Recent advances in next generation sequencing (NGS) have positioned whole exome sequencing (WES) as an efficient first-tier method in genetic diagnosis. However, despite the diagnostic yield of 35%-50% in intellectual disability (ID) many patients still remain undiagnosed due to inherent limitations and bioinformatic short-comings. In this study, we reanalyzed WES data from 159 Iranian families showing recessively inherited ID.
View Article and Find Full Text PDFAppl Health Econ Health Policy
December 2024
Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.
Background: Patients with suspected rare diseases often experience lengthy and uncertain diagnostic pathways. This study aimed to estimate the cost-effectiveness of exome sequencing (ES) in different positions in the diagnostic pathway for patients suspected of having a rare genetic disease.
Methods: Data collected retrospectively from 305 patients suspected of having a rare genetic disease (RGD), who received clinical-grade ES and participated in the Canadian multicentre Care4Rare-SOLVE study, informed a discrete event simulation of the diagnostic pathway.
Mol Genet Metab
December 2024
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address:
Background: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to diagnosis and treatment with pyridoxine, and many patients are diagnosed after six months of age when lysine reduction therapies have limited efficacy.
View Article and Find Full Text PDFInt J Neonatal Screen
December 2024
Engineering Mathematics and Computing Lab (EMCL), Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, 69120 Heidelberg, Germany.
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disease increasingly included in newborn screening (NBS) programs worldwide. Because of the broad biochemical spectrum of individuals with GA1 and the lack of reliable second-tier strategies, NBS for GA1 is still confronted with a high rate of false positives. In this study, we aim to increase the specificity of NBS for GA1 and, hence, to reduce the rate of false positives through machine learning methods.
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