Evidence map›Paper›PMID 16850257›Full record

ArticleMetabolic brain disease2006

Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis.

Maritha J Kotze, J Nico P de Villiers, Louise Warnich, Stephen Schmidt, Jonathan Carr, Erna Mansvelt, Elba Fourie, Susan J van Rensburg

Abstract readCase Reports
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In one paragraph

Article in Metabolic brain disease, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.1field-weighted citation impact, top 47% 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

10 citing papers in PubMed, 21 citations in OpenAlex.

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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 4 institutions in 2 countries.

Maritha J KotzeGenecare Molecular Genetics Pty Ltd, Christiaan Barnard Memorial Hospital, 162 Longmarket Street, Cape Town, South Africa. mjk@genecare.co.za
J Nico P de Villiers
Louise Warnich
Stephen Schmidt
Jonathan Carr
Erna Mansvelt
Elba Fourie
Susan J van Rensburg
Stellenbosch University · ZAGeneCare Research Institute (Japan) · JPNational Health Laboratory Service · ZATygerberg Hospital · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Caucasian South African patients with multiple sclerosis (MS) were screened for the most common hereditary haemochromatosis (HH) mutations, H63D and C282Y, in order to determine the impact of iron overload on clinical outcome of MS. DNA screening for mutations H63D and C282Y in 118 apparently unrelated MS patients did not reveal significant differences in allele frequencies in comparison with a control group from the same population. Of 17 MS patients heterozygous for C282Y, 3 had below normal and none had above normal transferrin saturation levels. One of the index MS patients, and subsequently also her sister who also has MS, tested positive for two copies of mutation C282Y. Determination of iron status revealed high serum ferritin and transferrin saturation levels in both patients. However, the index patient, being unaware of her C282Y status, had received treatment for iron deficiency in the past and her MS symptoms were less severe than those of her sister who has been wheelchair bound for the past 12 years and who did not take iron supplements. Lack of clinical manifestation of HH without any signs of organ damage in the C282Y homozygous MS patients is in accordance with a role of iron dysregulation in the aetiology of MS.

Indexed as

AdultAgedAllelesBlood Cell CountDietary SupplementsDNADNA Mutational AnalysisFemaleFerritinsGene FrequencyGenotypeHemochromatosisHumansIronMaleMiddle AgedDNAFerritinsIronTransferrin

Identifiers

PMID16850257
OpenAlexW2137265681

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.