Evidence map›Paper›PMID 33473342›Full record

ArticleJIMD reports2021

Impact of trimethylaminuria on daily psychosocial functioning.

Daniel Roddy, Philomena McCarthy, Darragh Nerney, Jennifer Mulligan-Rabbitt, Edwin Smith, Eileen P Treacy

Open access · goldAbstract read
In one paragraph

Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
3.9field-weighted citation impact, top 6% 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

7 citing papers in PubMed, 25 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

6 authors at 4 institutions in 2 countries.

Daniel RoddyNational Centre for Inherited Metabolic Disorders The Mater Misericordiae University Hospital Dublin Ireland.
Philomena McCarthyNational Centre for Inherited Metabolic Disorders The Mater Misericordiae University Hospital Dublin Ireland.ORCID https://orcid.org/0000-0003-3538-1280
Darragh NerneyNational Centre for Inherited Metabolic Disorders The Mater Misericordiae University Hospital Dublin Ireland.
Jennifer Mulligan-RabbittTrinity College Dublin The University of Dublin Dublin Ireland.
Edwin SmithDepartment of Clinical Chemistry Sheffield Children's Hospital Sheffield UK.
Eileen P TreacyNational Centre for Inherited Metabolic Disorders The Mater Misericordiae University Hospital Dublin Ireland.
Mater Misericordiae University Hospital · IESheffield Children's Hospital · GBTrinity College Dublin · IEUniversity College Dublin · IE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTrimethylaminuria (TMAU) (OMIM #602079) is a rare inherited metabolic condition. TMAU is associated with decreased hepatic trimethylamine N-oxidation, which leads to an excess of the volatile trimethylamine (TMA) instead of substrate conversion to trimethylamine N-oxide (TMAO). TMA is a tertiary amine derived from the enterobacterial metabolism of precursors such as choline and phosphatidylcholine present in the diet, and is also a bacterial metabolite of TMAO, a normal constituent of saltwater fish. When the involved enzyme flavin mono-oxygenase 3 is deficient, TMA builds up and is released in the person's sweat, urine, and breath, giving off a strong body odor. We have recently reported the biochemical and genetic characteristics of 13 Irish adult patients with TMAU attending the main Irish Reference Center. Research on the behavioral and psychosocial aspects of this condition is limited. This study explores the patients' perspectives of living with TMAU in Ireland.

methodsA qualitative descriptive phenomenological approach was used. Six adults participated in this study. Data were gathered through semi-structured interviews, which were transcribed and analyzed.

resultsThe results suggest that the participants experienced a negative journey to diagnosis. Fear, anxiety, paranoia, and dysfunctional thinking are a constant struggle. Participants reported using avoidant coping mechanisms and strategic planning to navigate daily life.

conclusionIt is considered that the results from this study will inform future interventions with this unique patient cohort.

Indexed as

coping mechanismlived experiencepatients' perspectivespsychosocialstrategic planningtrimethylaminuria (TMAU)

Identifiers

PMID33473342
PMCPMC7802621
OpenAlexW3091844763

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.