Evidence map›Paper›PMID 33225890›Full record

ReviewBMC gastroenterology2020

Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature.

Larissa Brussa Reis, Daniele Konzen, Cristina Brinckmann Oliveira Netto, Pedro Moacir Braghirolli Braghini, Gabriel Prolla, Patricia Ashton-Prolla

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

Review in BMC gastroenterology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 43% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Tuberous sclerosis complex: a complex case.Cold Spring Harbor molecular case studies · 2022
    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

6 authors at 5 institutions in 1 country.

Larissa Brussa ReisLaboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.
Daniele KonzenHospital Mãe de Deus, Porto Alegre, Rio Grande do Sul, Brazil.
Cristina Brinckmann Oliveira NettoServiço de Genética Médica, Hospital de Clinicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, CEP: 90035-903, Brazil.
Pedro Moacir Braghirolli BraghiniHospital São Vicente de Paulo, Passo Fundo, Rio Grande do Sul, Brazil.
Gabriel ProllaHospital São Lucas, Escola de Medicina da Pontifícia Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Rio Grande do Sul, Brazil.
Patricia Ashton-ProllaLaboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil. pprolla@hcpa.edu.br.ORCID https://orcid.org/0000-0002-5093-4739
Universidade Federal do Rio Grande do Sul · BRHospital de Clínicas de Porto Alegre · BRHospital Mãe de Deus · BRHospital São Vicente de Paulo · BRPontifícia Universidade Católica do Rio Grande do Sul · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagnostic criteria. These criteria do not include gastrointestinal tumors. CASE PRESENTATION: We report a 45-year-old patient with a clinical and molecular diagnosis of TSC and a family history of cancer, presenting two rare associated findings: gastrointestinal polyposis and pancreatic neuroendocrine tumor. This patient was subjected to a genetic test with 80 cancer predisposing genes. The genetic panel revealed the presence of a large pathogenic deletion in the TSC2 gene, covering exons 2 to 16 and including the initiation codon. No changes were identified in the colorectal cancer and colorectal polyposis genes. DISCUSSION AND

conclusionsWe describe a case of TSC that presented tumors of the gastro intestinal tract that are commonly unrelated to the disease. The patient described here emphasizes the importance of considering polyposis of the gastrointestinal tract and low grade neuroendocrine tumor as part of the TSC syndromic phenotype.

Indexed as

AngiomyolipomaKidney NeoplasmsTuberous SclerosisFemaleGastrointestinal TractHumansMiddle AgedMutationTuberous Sclerosis Complex 2 ProteinTuberous Sclerosis Complex 2 ProteinAdenomatous colonicCase reportPancreatic neuroendocrine tumorRectal polyposisTuberous sclerosis complex

Identifiers

PMID33225890
PMCPMC7682061
OpenAlexW3110056748

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.