Evidence map›Paper›PMID 38585582›Full record

ArticleClinical case reports2024

Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing.

Johanna Braegelmann, Annie Mathew, Dagmar Führer-Sakel, Harald Lahner

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

4 authors.

Johanna BraegelmannDepartment of Endocrinology, Diabetes and Metabolism and Division of Laboratory Research, Endocrine Tumor Center at WTZ and Member of EURACAN, ENETS Center of Excellence University Hospital Essen Essen Germany.ORCID https://orcid.org/0009-0006-8696-8291
Annie MathewDepartment of Endocrinology, Diabetes and Metabolism and Division of Laboratory Research, Endocrine Tumor Center at WTZ and Member of EURACAN, ENETS Center of Excellence University Hospital Essen Essen Germany.
Dagmar Führer-SakelDepartment of Endocrinology, Diabetes and Metabolism and Division of Laboratory Research, Endocrine Tumor Center at WTZ and Member of EURACAN, ENETS Center of Excellence University Hospital Essen Essen Germany.
Harald LahnerDepartment of Endocrinology, Diabetes and Metabolism and Division of Laboratory Research, Endocrine Tumor Center at WTZ and Member of EURACAN, ENETS Center of Excellence University Hospital Essen Essen Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The newly published clinical consensus guideline on the management of PGL/PCC is helpful for decision-making for diagnostics and treatment. Still, the treatment of patients with SDHD gene mutations requires an individual approach and those patients belong to multiprofessional teams. It is often assumed that spouses are genetically unrelated. However, the genetic relationships between spouses should always be examined empathetically and impartially.

Indexed as

glomus tumorhereditary pheochromocytomaparaganglioma syndromesSDHD gene mutation

Identifiers

PMID38585582
PMCPMC10995254

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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.