Evidence map›Paper›PMID 35292049›Full record

ArticleOrphanet journal of rare diseases2022

Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex.

David M Ritter, Bailey K Fessler, Daniel Ebrahimi-Fakhari, Jun Wei, David N Franz, Darcy A Krueger, Andrew T Trout, Alexander J Towbin

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

Article in Orphanet journal of rare diseases, 2022. 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
0.8field-weighted citation impact, top 29% 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, 9 citations in OpenAlex.

  1. Tuberous sclerosis complex.Nature reviews. Disease primers · 2026
    Review
  2. Article
  3. Article
  4. Review
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 3 institutions in 2 countries.

David M RitterDivision of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. david.ritter@cchmc.org.ORCID 0000-0001-7723-3636
Bailey K FesslerUniversity of Cincinnati College of Medicine, Cincinnati, OH, USA.
Daniel Ebrahimi-FakhariDepartment of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Jun WeiThe First Hospital of Yichang, Yichang, China.
David N FranzDivision of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Darcy A KruegerDivision of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Andrew T TroutDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Alexander J TowbinDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Cincinnati Children's Hospital Medical Center · USUniversity Hospital Münster · DEUniversity of Cincinnati Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal and chest imaging to monitor these thoracoabdominal findings, but imaging is not uniformly done across centers. Thus, the prevalence of many findings is unknown. To answer this, we categorized the clinical reads of 1398 thoracoabdominal scans from 649 patients of all ages in the Cincinnati Children's Hospital TSC Repository Database.

resultsTypical TSC findings were present in many patients: kidney cysts (72%), kidney fat-containing angiomyolipomas (51%), kidney lipid-poor angiomyolipomas (27%), liver angiomyolipomas (19%), and lung nodules thought to represent multifocal micronodular pneumocyte hyperplasia (MMPH) (18%). While many features were more common in TSC2 patients, TSC1 patients had a higher prevalence of MMPH than TSC2 patients (24% versus 13%, p = 0.05). Many rare findings (e.g., lymphatic malformations and liver masses) are more common in TSC than in the general population. Additionally, most thoracoabdominal imaging findings increased with age except kidney cysts which decreased, with the 0-10 years age group having the highest percentage (69% 0-10 years, 49% 10-21 years, 48% 21 + years, p < 0.001). Finally, in our population, no patients had renal cell carcinoma found on abdominal imaging.

conclusionsThese results show that regular thoracoabdominal scans in TSC may show several findings that should not be ignored or, conversely, over-reacted to when found in patients with TSC. Female sex, TSC2 mutation, and age are risk factors for many thoracoabdominal findings. The data suggest novel interactions of genetic mutation with pulmonary nodules and age with renal cysts. Finally, in agreement with other works, these findings indicate that several rare thoracoabdominal imaging findings occur at higher rates in the TSC population than in the general population. This work supports obtaining detailed thoracoabdominal imaging in patients with TSC.

Indexed as

AngiomyolipomaCystsKidney NeoplasmsTuberous SclerosisFemaleHumansHyperplasiaPrevalenceCTMRIPulmonary nodulesRenal angiomyolipomasRenal cystsTSC1TSC2Tuberous sclerosis

Identifiers

PMID35292049
PMCPMC8922878
OpenAlexW4220848816

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.