Evidence map›Paper›PMID 31766106›Full record

ArticleDiagnostics (Basel, Switzerland)2019

Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study.

Danielle de Araujo Torres, Anneliese Lopes Barth, Mariana Pires de Mello Valente, Paulo Pires de Mello, Dafne Dain Gandelman Horovitz

Open access · goldAbstract read
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2019. 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
0.3field-weighted citation impact, top 39% 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, 7 citations in OpenAlex.

  1. Review
  2. Review
  3. [Characterization of otorhinolaryngologic manifestations in children with mucopolysaccharide storage disease typeⅠand type Ⅱ].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024
    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

5 authors at 1 institution in 1 country.

Danielle de Araujo TorresMedical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil.ORCID 0000-0002-1520-1839
Anneliese Lopes BarthMedical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil.
Mariana Pires de Mello ValenteMedical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil.
Paulo Pires de MelloMedical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil.ORCID 0000-0002-0811-3582
Dafne Dain Gandelman HorovitzMedical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil.
Fundação Oswaldo Cruz · BR

Funding

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior 1391450
6 · The paper itself

Abstract

Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism with an aggressive and usually fatal course. Therefore, early treatment is essential because the involvement of head and neck structures is almost always present in MPS. Our study aimed to retrospectively assess-via a chart review and a survey of caregivers-the history of ear, nose and throat (ENT) symptoms, the number of otolaryngology visits prior to diagnosis, and whether otolaryngologists diagnosed the disease in a cohort of MPS patients followed at an academic medical center. Twenty-three patients were evaluated. Age at diagnosis ranged from 0.2 to 33.0 years (median, 3.2 years). Prior to being diagnosed with MPS, 20/23 (87%) patients presented with at least one episode of otalgia, airway disorder, sleep disturbance, speech delay or suspected hearing loss. One patient had an adenotonsillectomy with paracentesis of tympanic membranes. Ten of the 23 patients (43%) were seen by an otolaryngologist before the diagnosis of MPS, none of which had the disease suspected during these visits. Notwithstanding limitations, our results suggest that increased awareness of MPS among otolaryngologists may allow for earlier diagnosis and better management of these patients.

Indexed as

early diagnosismucopolysaccharidosesotolaryngologyrespiratory tract

Identifiers

PMID31766106
PMCPMC6963463
OpenAlexW2989147713

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.