Evidence map›Paper›PMID 35428236›Full record

ReviewBMC medical genomics2022

Comment on Balsamo et al.: "Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature".

Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco, Jaques Waisberg

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

Review in BMC medical genomics, 2022. 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, top 92% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

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

8 authors at 1 institution in 1 country.

Flávia BalsamoDiscipline of General Surgery of Urgency and Digestive System, Department of Surgery I, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.
Pedro Augusto Soffner CardosoDiscipline of General Surgery of Urgency and Digestive System, Department of Surgery I, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.
Sergio Aparecido do Amaral JuniorDiscipline of General Surgery of Urgency and Digestive System, Department of Surgery I, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.
Therésè Rachell TheodoroDiscipline of Biochemistry, Department of Morfology and Physiology, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.
Flavia de Sousa GehrkeDiscipline of General Surgery of Urgency and Digestive System, Department of Surgery I, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.
Maria Aparecida da Silva PinhalDiscipline of Biochemistry, Department of Morfology and Physiology, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.
Bianca BiancoDiscipline of Sexual and Reproductive Health and Populationa Genetics, Department of Collective Health, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil. bianca.bianco@fmabc.br.ORCID 0000-0001-8669-3562
Jaques WaisbergDiscipline of General Surgery of Urgency and Digestive System, Department of Surgery I, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.
Faculdade de Medicina do ABC · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this comment, we highlight the diagnosis of Birt-Hogg-Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent to fibrofolliculomas, presence of bilateral renal mass suggestive of angiomyolipomas by imaging exams. A benign/likely benign variant of FLCN in the intron 13 was also detected. Still, his previous pathological history presented other relevant data such as the prior removal of vocal cord angioma, total thyroidectomy, and left parotidectomy due to a cystic lesion whose histopathological examination revealed the presence of oncocytoma and lipomatosis, in addition to basal cell cutaneous carcinoma. Simultaneous gastrointestinal hyperplastic polyposis was found in this patient. The case we reported does not have the genotypic and phenotypic expressions most present in BHDS. These facts make it important for readers to know the clinical and genetic presentation facets of this unusual syndrome.

Indexed as

Birt-Hogg-Dube SyndromeColorectal NeoplasmsKidney NeoplasmsFemaleHumansHyperplasiaMaleMiddle AgedProto-Oncogene ProteinsTumor Suppressor ProteinsProto-Oncogene ProteinsTumor Suppressor ProteinsAngiomyolipomaBirt–Hogg–Dubé syndromeFLCN geneGastrointestinal hyperplastic polyposis

Identifiers

PMID35428236
PMCPMC9013088
OpenAlexW4225999497

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.