Context: Blood cutoff values for vitamin A deficiency in children aged 3-10 years have not been addressed in the literature.
Objective: To identify blood retinol concentrations for determining severe vitamin A deficiency in children aged 3-10 years.
Data Sources: The MEDLINE, Web of Science, Embase, and Scopus databases were searched.
Data Extraction: Two reviewers independently extracted article data and assessed quality.
Data Analysis: The hierarchical summary receiver operating characteristic models were applied for the diagnostic accuracy meta-analysis. This review is registered at PROSPERO (identifier: CRD42020149367).
Results: A total of 15 articles met the eligibility criteria, and 9 were included in the diagnostic accuracy meta-analysis. The summary estimates (95%CI) were: Sensitivity, 0.39 (0.20-0.62); specificity, 0.79 (0.65-0.88); positive likelihood ratio, 1.85 (1.33-2.57); and negative likelihood ratio, 0.77 (0.60-0.99). The area under the curve of the overall analysis was 0.68 (95%CI 0.63-0.72).
Conclusions: Blood retinol concentrations have low diagnostic accuracy for severe vitamin A deficiency in children aged 3-10 years. Therefore, there is unclear evidence about the preferable cutoff point for determining severe vitamin A deficiency in children in this age group.
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http://dx.doi.org/10.1093/nutrit/nuaa133 | DOI Listing |
J Pediatr (Rio J)
December 2024
The University of Texas Health Science Center at Houston, School of Public Health in Austin, Department of Epidemiology, Michael & Susan Dell Center for Healthy Living, Texas Physical Activity Research Collaborative (Texas PARC), Austin, TX, USA. Electronic address:
Objective: This study aimed to assess the prevalence of the double burden of malnutrition (DBM) at the individual level in children and adolescents through a comprehensive literature review.
Sources: Electronic databases, including PubMed, Scopus, and Web of Science, were searched for articles published up until September 9, 2022. Studies reporting individual-level DBM in children and adolescents were included, and meta-regression models were used to investigate potential causes of heterogeneity across studies.
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFJ Clin Immunol
January 2025
Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.
Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFJ Neurooncol
January 2025
Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, 100045, China.
Background: Craniopharyngioma (CP), a benign tumor originating from remnants of Rathke's pouch in the sellar region, accounts for approximately 30% of all cases of craniopharyngioma. Radiation therapy has been used to treat CP patients for decades; however, there is still a lack of systematic reviews on the long-term tumor control outcomes in pediatric CP patients treated with external radiation therapy.
Methods: We conducted a comprehensive search of multiple databases for studies on the tumor progression rates of childhood-onset CP(COCP) patients who received external radiotherapy.
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