Evidence map›Paper›PMID 42295336›Full record

ReviewInnere Medizin (Heidelberg, Germany)2026

[Rare diseases: a concept for a structured diagnostic pathway].

Laura Schmidt-Pennington

Abstract readEnglish AbstractReview
PubMed Publisher
In one paragraph

Review in Innere Medizin (Heidelberg, Germany), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

1 author.

Laura Schmidt-PenningtonKlinik für Endokrinologie, Stoffwechsel- und Ernährungsmedizin, Campus Charité Mitte, Charité - Universitätsmedizin Berlin, Charitéplatz 1, Berlin, Deutschland. laura.schmidt-pennington@charite.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

With around 7% of the population affected, rare diseases (RD) altogether represent a relevant group of conditions in Europe. One of the central problems of RD care is delayed diagnosis (on average 6-8 years), which has serious implications for the prognosis, treatment and quality of life of those affected. Primary caretakers play a crucial role in attempts to improve this situation, since they are the ones who identify suspected cases and take charge of their coordination. The implementation of a structured diagnostic pathway could considerably reduce the burden on primary caretakers, effectively shorten the time to diagnosis and lower costs for the healthcare system. Therefore, the following article maps out a concrete strategy. It contributes to strengthening primary caretakers in their role as central coordinators, as well as to improving cooperation between primary caretakers, patients affected by RD, specialists and centres for RD.

Indexed as

Critical PathwaysRare DiseasesDelayed DiagnosisGermanyHumansIntersectoral CollaborationPrimary Health CareCentres for rare diseasesDelayed diagnosis/rare diseasesMethod of diagnostik reasoning/rare diseasesPrimary careSimultaneous biopsychosocial diagnostics

Identifiers

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.