Evidence map›Paper›PMID 27973470›Full record

ArticlePediatric research2017

Nutritional rickets: vitamin D, calcium, and the genetic make-up.

Mohamed El Kholy, Heba Elsedfy, Monica Fernández-Cancio, Rasha Tarif Hamza, Nermine Hussein Amr, Alaa Youssef Ahmed, Nadin Nabil Toaima, Laura Audí

Open access · bronzeAbstract read
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In one paragraph

Article in Pediatric research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 2 pooled it
–field-weighted citation impact, top 83% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 2 syntheses or guidelines pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Observational
  4. Review
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 2 countries.

Mohamed El KholyPediatrics Department, Ain Shams University, Cairo, Egypt.
Heba ElsedfyPediatrics Department, Ain Shams University, Cairo, Egypt.
Monica Fernández-CancioPediatric Endocrinology Research Unit, VHIR (Vall d'Hebron Institut de Recerca), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, CIBERER (Center for Biomedical Research on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain.
Rasha Tarif HamzaPediatrics Department, Ain Shams University, Cairo, Egypt.
Nermine Hussein AmrPediatrics Department, Ain Shams University, Cairo, Egypt.
Alaa Youssef AhmedPediatrics Department, Ain Shams University, Cairo, Egypt.
Nadin Nabil ToaimaPediatrics Department, Ain Shams University, Cairo, Egypt.
Laura AudíPediatric Endocrinology Research Unit, VHIR (Vall d'Hebron Institut de Recerca), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, CIBERER (Center for Biomedical Research on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain.
Ain Shams University · EGInstituto de Salud Carlos III · ESVall d'Hebron Institut de Recerca · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role.

methodsProspective study: 109 rachitic children completed a 6-mo study period or until rachitic manifestations disappeared. Thirty children were selected as controls. Clinical and biochemical data were evaluated at baseline in patients and controls and biochemistry re-evaluated at radiological healing. Therapy was stratified in three different protocols. Fifty-four single-nucleotide polymorphisms (SNPs) of five vitD system genes (VDR, CP2R1, CYP27B1, CYP24A1, and GC) were genotyped and their association with clinical and biochemcial data was analyzed.

resultsTherapy response was similar in terms of radiological healing although it was not so in terms of biochemical normalization. Only VDR gene (promoter, start-codon, and intronic genotypes) was rickets-associated in terms of serum 25-OH-D, calcium, radiological severity and time needed to heal. Eight patients with sufficient calcium intake and 25-OH-D levels carried a VDR genotype lacking minor allele homozygous genotypes at SNPs spread along the gene.

conclusionAlthough patients presented epidemiologic factors strongly contributing to rickets, genetic modulation affecting predisposition, severity, and clinical course is exerted, at least in part, by VDR gene polymorphic variation.

Indexed as

25-Hydroxyvitamin D3 1-alpha-HydroxylaseAllelesCalciumCase-Control StudiesChild Nutrition DisordersChild Nutrition SciencesChild, PreschoolCholestanetriol 26-MonooxygenaseCytochrome P450 Family 2FemaleGenotypeHomozygoteHumansInfantMalePolymorphism, Single Nucleotide25-Hydroxyvitamin D3 1-alpha-HydroxylaseCalciumCholestanetriol 26-MonooxygenaseCYP24A1 protein, humanCYP27B1 protein, humanCYP2R1 protein, humanCytochrome P450 Family 2Receptors, CalcitriolVitamin DVitamin D3 24-HydroxylaseVitamin D-Binding Protein

Identifiers

PMID27973470
OpenAlexW2557267521

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.