Evidence map›Paper›PMID 33710528›Full record

ReviewMetabolic brain disease2021

Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part II. Insights from two MS cases.

Susan J van Rensburg, Coenraad Hattingh, Clint Johannes, Kelebogile E Moremi, Armand V Peeters, Carel J van Heerden, Rajiv T Erasmus, Annalise E Zemlin, Merlisa C Kemp, Mariaan Jaftha and 6 more

Erratum issuedAbstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Metabolic brain disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 28% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 5 institutions in 1 country.

Susan J van RensburgDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa. sjvr@sun.ac.za.ORCID https://orcid.org/0000-0002-2437-8978
Coenraad HattinghDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Clint JohannesDepartment of Internal Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg Academic Hospital, Cape Town, South Africa.
Kelebogile E MoremiDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, National Health Laboratory Service (NHLS), Cape Town, South Africa.ORCID https://orcid.org/0000-0003-1105-1578
Armand V PeetersDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID https://orcid.org/0000-0002-7155-8226
Carel J van HeerdenCentral Analytical Facility (CAF), DNA Sequencing Unit, Stellenbosch University, Stellenbosch, South Africa.ORCID https://orcid.org/0000-0003-1786-7527
Rajiv T ErasmusDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID https://orcid.org/0000-0001-6831-4215
Annalise E ZemlinDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, National Health Laboratory Service (NHLS), Cape Town, South Africa.ORCID https://orcid.org/0000-0001-7621-4679
Merlisa C KempDepartment of Medical Imaging and Therapeutic Sciences, Faculty of Health and Wellness Sciences, Cape Peninsula University of Technology, Cape Town, South Africa.ORCID https://orcid.org/0000-0001-5126-6982
Mariaan JafthaDepartment of Medical Imaging and Therapeutic Sciences, Faculty of Health and Wellness Sciences, Cape Peninsula University of Technology, Cape Town, South Africa.
Aye Aye KhineDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, National Health Laboratory Service (NHLS), Cape Town, South Africa.
Felix C V PotocnikDepartment of Psychiatry and Mental Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Lindiwe WhatiGenetic Care Centre, Tygerberg Academic Hospital, Cape Town, South Africa.
Penelope Engel-HillsFaculty of Health and Wellness Sciences, Cape Peninsula University of Technology, Cape Town, South Africa.ORCID https://orcid.org/0000-0002-1084-769X
Ronald van ToornDepartment of Pediatrics and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID https://orcid.org/0000-0002-2689-065X
Maritha J KotzeDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, National Health Laboratory Service (NHLS), Cape Town, South Africa.ORCID https://orcid.org/0000-0002-6050-2876
Stellenbosch University · ZANational Health Laboratory Service · ZACape Peninsula University of Technology · ZATygerberg Hospital · ZAWestern Cape Department of Health · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In Part I of this Review we evaluated the scientific evidence for a Metabolic Model of multiple sclerosis (MS). Part II outlines the implementation of an adaptive pathology-supported genetic testing (PSGT) algorithm aimed at preventing/reversing disability in two illustrative MS cases, starting with a questionnaire-based risk assessment, including family history and lifestyle factors. Measurement of iron, vitamin B12, vitamin D, cholesterol and homocysteine levels identified biochemical deficits in both cases. Case 1, after following the PSGT program for 15 years, had an expanded disability status scale (EDSS) of 2.0 (no neurological sequelae) together with preserved brain volume on magnetic resonance imaging (MRI). A novel form of iron deficiency was identified in Case 1, as biochemical testing at each hospital submission due to MS symptoms showed low serum iron, ferritin and transferrin saturation, while hematological status and erythrocyte sedimentation rate measurement of systemic inflammation remained normal. Case 2 was unable to walk unaided until her EDSS improved from 6.5 to 4.0 over 12 months after implementation of the PSGT program, with amelioration of her suboptimal biochemical markers and changes to her diet and lifestyle, allowing her to regain independence. Genotype-phenotype correlation using a pathway panel of functional single nucleotide variants (SNVs) to facilitate clinical interpretation of whole exome sequencing (WES), elucidated the underlying metabolic pathways related to the biochemical deficits. A cure for MS will remain an elusive goal if separated from nutritional support required for production and maintenance of myelin, which can only be achieved by a lifelong investment in wellness.

Indexed as

Genetic TestingHumansIronIron DeficienciesLife StyleMultiple SclerosisMyelin SheathIronBiochemical markersDisability preventionMultiple sclerosisNutritional reservePathology-supported genetic testing (PSGT)Whole exome sequencing (WES)

Identifiers

PMID33710528
OpenAlexW3133708557

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.