Evidence map›Paper›PMID 32600122›Full record

Observational studyOtolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery2020

Familial Aggregation in Idiopathic Subglottic Stenosis.

Virginia E Drake, Alexander Gelbard, Nara Sobriera, Elizabeth Wohler, Lynne L Berry, Lena L Hussain, Alexander Hillel

Open access · greenAbstract readMulticenter StudyObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.4field-weighted citation impact, top 15% 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

8 citing papers in PubMed, 16 citations in OpenAlex.

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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

7 authors at 3 institutions in 1 country.

Virginia E DrakeDepartment of Otolaryngology-Head and Neck Surgery, Johns Hopkins University, Baltimore, Maryland, USA.
Alexander GelbardDepartment of Otolaryngology-Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Nara SobrieraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Elizabeth WohlerMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Lynne L BerryVanderbilt Center for Quantitative Sciences, Vanderbilt-Ingram Cancer Center, Nashville, Tennessee, USA.
Lena L HussainVanderbilt Center for Quantitative Sciences, Vanderbilt-Ingram Cancer Center, Nashville, Tennessee, USA.
Alexander HillelDepartment of Otolaryngology-Head and Neck Surgery, Johns Hopkins University, Baltimore, Maryland, USA.
Johns Hopkins University · USVanderbilt-Ingram Cancer CenterVanderbilt University Medical Center · US

Funding

Targeting mTOR regulation of T-lymphocytes and fibroblasts in Laryngotracheal StenosisR01DC018567 · NIDCD · JOHNS HOPKINS UNIVERSITY · PI HILLEL, ALEXANDER · 2020 to 2024
$3.8M
Molecular Interrogation of the Host-Pathogen Interface in Idiopathic Subglottic StensosisR01HL146401 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GELBARD, ALEXANDER · 2019 to 2023
$1.9M
Immune Cell Modulation in Laryngotrachael FibrosisK23DC014082 · NIDCD · JOHNS HOPKINS UNIVERSITY · PI HILLEL, ALEXANDER · 2015 to 2019
$1.2M
Metabolic Reprogramming in Laryngotracheal StenosisR21DC017225 · NIDCD · JOHNS HOPKINS UNIVERSITY · PI HILLEL, ALEXANDER · 2018 to 2020
$491k
NHLBI NIH HHS R01 HL146401NIDCD NIH HHS K23 DC014082NIDCD NIH HHS R01 DC018567NIDCD NIH HHS R21 DC017225
6 · The paper itself

Abstract

objectiveTo evaluate inheritance patterns and define the familial clustering rate of idiopathic subglottic stenosis (iSGS). STUDY

designRetrospective observational study.

settingInternational multicenter collaborative of >30 tertiary care centers.

methodsPatients with a clinically confirmed iSGS diagnosis within the North American Airway Collaborative's iSGS

resultsA total of 810 patients with iSGS were identified. Positive family history for iSGS was reported in 44 patients in 20 families. The rate of familial clustering in iSGS is 2.5%. Mean age of disease onset is 42.6 years. Of the 44 patients with familial aggregation of iSGS, 42 were female and 2 were male; 13 were mother-daughter pairs and 2 were father-daughter pairs. There were 3 sister-sister pairs. There was 1 niece-aunt pair and 2 groups of 3 family members. One pedigree demonstrated 2 affected mother-daughter pairs, with the mothers being first-degree paternal cousins. Inheritance is non-Mendelian, and anticipation is present in 11 of 13 (84%) parent-offspring pairs. The mean age of onset between parents (48.4 years) and offspring (36.1 years) was significantly different (

conclusionThis study quantifies the rate of familial clustering of iSGS at 2.5%. Inheritance is non-Mendelian, and disease demonstrates anticipation. These data suggest that there may be a genetic contribution in iSGS.

Indexed as

Inheritance PatternsAdultAge of OnsetFamilyFemaleHumansLaryngostenosisMaleMiddle AgedPatient AcuityPedigreeRetrospective Studiesidiopathic subglottic stenosislaryngotracheal stenosis

Identifiers

PMID32600122
PMCPMC7809487
OpenAlexW3040008333

What OpenQuestion holds

Textmetadata
LicenceTDM
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.