Evidence map›Paper›PMID 30238067›Full record

ArticleAmerican journal of ophthalmology case reports2018

Aicardi syndrome in a 20-year-old female.

Maria A Mavrommatis, Alan H Friedman, Mary E Fowkes, Marco M Hefti

Open access · goldAbstract readCase Reports
In one paragraph

Article in American journal of ophthalmology case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 30% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. A rare case of bilateral vitreoretinopathy of Aicardi syndrome.American journal of ophthalmology case reports · 2022
    Article
  2. 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

4 authors at 3 institutions in 1 country.

Maria A MavrommatisIcahn School of Medicine at Mount Sinai, 1468 Madison Ave, New York, NY, 10029, USA.
Alan H FriedmanDepartment of Ophthalmology, Mount Sinai Medical Center, 1468 Madison Ave, New York, NY, 10029, USA.
Mary E FowkesDepartment of Pathology, Mount Sinai Medical Center, 1468 Madison Ave, New York, NY, 10029, USA.
Marco M HeftiDepartment of Pathology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Mount Sinai Medical Center · USIcahn School of Medicine at Mount Sinai · USUniversity of Iowa Hospitals and Clinics · US

Funding

The University of Iowa Clinical and Translational Science AwardKL2TR002536 · NCATS · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G · 2018 to 2022
$3.3M
NCATS NIH HHS KL2 TR002536
6 · The paper itself

Abstract

purposeTo describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new observations. OBSERVATIONS: We report the case of a 20-year-old woman with Aicardi Syndrome who presented in respiratory distress with bradycardia and died soon thereafter. She had a history of severe mental retardation, seizure disorder, advanced scoliosis and numerous contractures in addition to congenital ocular malformations resulting in bilateral blindness. The case is notable for her age and longevity, as most patients with Aicardi Syndrome expire much younger, as well as the presence of intact nuclei under the posterior lens capsule. CONCLUSIONS AND IMPORTANCE: Aicardi Syndrome is a rare X-linked cerebro-retinal disorder typified by seizures, agenesis of the corpus callosum, and chorioretinal lacunae. Documenting alterations from and additions to this triad of symptoms is critical to better understanding both the syndrome itself, as well as the full breadth of its clinical impact on the patient.

Indexed as

Aicardi syndromeChorioretinal lacunaeCorpus callosumPosterior lens capsule

Identifiers

PMID30238067
PMCPMC6143771
OpenAlexW2890043543

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.