Evidence map›Paper›PMID 36890577›Full record

ArticleOrphanet journal of rare diseases2023

Brazilian registry of patients with porphyria: REBRAPPO study.

Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina Dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 23% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Clinical feature and genetic analysis ofFrontiers in genetics · 2023
    Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. 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

14 authors at 3 institutions in 1 country.

Paulo Victor Sgobbi SouzaNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil. pvsgobbi@gmail.com.ORCID 0000-0002-7416-7108
Gliciane AfonsoUniversidade Anhanguera, Campinas, Brazil.
Wladimir Bocca Vieira de Rezende PintoNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Paulo de Lima SerranoNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Bruno de Mattos Lombardi BadiaNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Igor Braga FariasNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Ana Carolina Dos Santos JorgeNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Roberta Ismael Lacerda MachadoNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Icaro França Navarro PintoNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Glenda Barbosa BarrosNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Helvia Bertoldo de OliveiraNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Samia Rogatis CalilNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Cibele FranzUniversidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
Acary Souza Bulle OliveiraNeuromuscular Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil.
Universidade Federal de São Paulo · BRAnhanguera-Uniderp University · BRUniversidade Federal do Estado do Rio de Janeiro · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPorphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, the porphyrias are usually underrecognized reflecting a lack of medical and disease awareness as well as few studies about natural history in large cohorts of patients. The main aim of this article is present consistent data about natural history and burden of disease in a large Brazilian cohort.

methodsWe conducted a national cross-sectional registry with retrospective clinical data of Brazilian patients with porphyria collected with Brazilian patients Association with Porphyria in collaboration with a tertiary care center for rare diseases.

resultsA cohort of 172 patients was analyzed in which 148 (86%) patients had the diagnosis of acute hepatic porphyria [AHP] that needed a mean of 62.04 medical visits and 9.6 years to achieve a definitive diagnosis. About AHP cohort, the most common first clinical manifestation were abdominal pain in 77 (52%) patients and acute muscle weakness in 23 (15.5%) with 73 (49.3%) patients presenting only one attack during disease course and 37 (25%) exhibiting 4 or more attacks in the last year. Of note, 105 patients with AHP reported chronic manifestations and the scores for quality of life are lower when compared with general healthy population.

conclusionsBrazilian patients with AHP had a higher prevalence of chronic disabling manifestations and a poor quality of life like other cohorts and a higher proportion of patients with recurrent attacks than previously reported.

Indexed as

Porphyria, Acute IntermittentPorphyriasBrazilCross-Sectional StudiesHumansPorphobilinogen SynthasePorphyrias, HepaticQuality of LifeRetrospective StudiesPorphobilinogen SynthaseAcute hepatic porphyriaAminolevulinic acidGivosiranHeme metabolismHereditary rare diseasesNatural historyPorphobilinogenPorphyrias

Identifiers

PMID36890577
PMCPMC9996884
OpenAlexW4323545400

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.