Evidence map›Paper›PMID 34926160›Full record

ArticleMolecular genetics and metabolism reports2022

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel

A Paisiou, M Rogalidou, R Pons, E Ioannidou, K Dimakou, A Papadopoulou, F M Vaz, G Vessalas, S M I Goorden, J Roelofsen and 7 more

Open access · goldAbstract read
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In one paragraph

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 50% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
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

17 authors at 5 institutions in 2 countries.

A PaisiouStem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece.
M RogalidouDivision of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece.
R PonsPediatric Neurology Unit, 1st Department of Pediatrics, , Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
E IoannidouStem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece.
K DimakouDivision of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece.
A PapadopoulouDivision of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece.
F M VazLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
G VessalasStem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece.
S M I GoordenLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
J RoelofsenLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
A ZoetekouwLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
M M NiemanLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
E DimitriouDepartment of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
M MoraitouDepartment of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
I PeristeriStem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece.
H MichelakakisDepartment of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
A B P van KuilenburgLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
Iaso Children’s Hospital · GRAmsterdam University Medical Centers · NLInstitute of Child Health · GRUniversity of Amsterdam · NLNetherlands Metabolomics Centre · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell transplantation on the biochemical and clinical aspects of the disease. The patient presented at the age of 15 years with severe gastrointestinal symptoms, cachexia, peripheral neuropathy and diffuse leukoencephalopathy. The diagnosis of MNGIE disease was established by the increased levels of thymidine and deoxyuridine in plasma and the complete deficiency of thymidine phosphorylase activity. The novel c.[978dup] (p.Ala327Argfs*?) variant and the previously described variant c.[417 + 1G > A] were identified in

Indexed as

AHSCT, allogeneic hematopoietic stem cell transplantation;Allogeneic hematopoietic stem cell transplantation, AHSCTCSF, cerebrospinal fluid;dThd, thymidine;dUrd, 2′-deoxyuridine;GVHD, Graft Versus Host Disease;HSCT, hematopoietic stem cell transplantation;Mitochondrial neurogastrointestinal encephalomyopathyMNGIEMNGIE, mitochondrial neurogastrointestinal encephalomyopathy;mtDNA, mitochondrial DNA;Mutation analysisOLT, orthotopic liver transplantation;PB, peripheral blood;PLT, platelet;TPN, total parenteral nutrition;TP, thymidine phosphorylase;TYMP, thymidine phosphorylase gene;VLCFA, very long chain fatty acids

Identifiers

PMID34926160
PMCPMC8649387
OpenAlexW4200171385

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.