Evidence map›Paper›PMID 42378359›Full record

ReviewRevista de la Facultad de Ciencias Medicas (Cordoba, Argentina)2026

María Sol Carregal, Ana Braslavsky, María Lourdes Posadas-Martínez

Abstract readReviewEnglish Abstract
In one paragraph

Review in Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina), 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

3 authors.

María Sol CarregalHospital Italiano de Buenos Aires.ORCID 0009-0006-2808-5247
Ana BraslavskyHospital Italiano de Buenos Aires.ORCID 0000-0001-8169-171X
María Lourdes Posadas-MartínezHospital Italiano de Buenos Aires.ORCID 0000-0003-1403-7069

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Rare diseases affect between 8-10% of the population. There are registries that describe these diseases but there is limited literature that reviews their characteristics, scope and limitations. Materialsand methods: A narrative review was designed that would cover literature from the last 10 years that described the limitations and geographic localizations of rare diseases registries, following SANRA guidelines. The search was carried out on Medline, Lilacs, Cochrane, Clinical Trials and Orphanet. Results: 978 articles were eligible from which 26 were selected for final review. 22 national registries were found, 10 from Europe. The scope was epidemiological, development of RCTs and improving interoperability between registries in most reviews. Regarding the country of origin, most were from USA, Italy, France, Spain and Germany. In Latin America, rare diseases registries are scarce, mostly from Uruguay and Argentina and depending on private funding. Discussion: Rare diseases registries correspond to a data collection system to describe a condition, typically of diseases related to each other. Their scope is mostly epidemiological and for recruitment of patients for RCTs. It is key to define primary and secondary objectives of rare diseases registries and perform quality control. The limitations are those of observational studies, such as selection bias, recollection bias and lack of standardized controls.

Indexed as

Medical RecordsRare DiseasesEuropeHumansinternship and residencyriskspecialization

Identifiers

PMID42378359
PMCPMC13431998

What OpenQuestion holds

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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.