Evidence map›Paper›PMID 38833161›Full record

ArticleNeuroradiology2024

Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.

Felice D'Arco, Sedat G Kandemirli, Hisham M Dahmoush, Cesar A P F Alves, Mariasavina Severino, Francesco Dellepiane, Caroline D Robson, Maarten H Lequin, Camilla Rossi-Espagnet, William T O'Brien and 3 more

Abstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Neuroradiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
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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.

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Felice D'Arco *Department of Radiology, Great Ormond Street Hospital for Children, London, UK.ORCID http://orcid.org/0000-0001-7396-591X
Sedat G Kandemirli *Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Hisham M DahmoushDepartment of Radiology, Lucile Packard Children's Hospital, Stanford University, Stanford, USA.
Cesar A P F AlvesDepartment of Radiology, Great Ormond Street Hospital for Children, London, UK.
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Francesco DellepianeNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Caroline D RobsonDepartment of Radiology, Great Ormond Street Hospital for Children, London, UK.
Maarten H LequinDepartment of Radiology, Texas Children's Hospital, North Campus, Austin, TX, USA.
Camilla Rossi-EspagnetFunctional and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS , Rome, Italy.
William T O'BrienDepartment of Radiology, Orlando Health - Arnold Palmer Hospital for Children, Orlando, FL, USA.
Robert NashDepartment of Paediatric Otolaryngology, Great Ormond Street Hospital, London, UK.
Emma ClementDepartment of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
Amy F JulianoDepartment of Radiology, Massachusetts Eye and Ear, Harvard Medical School, 243 Charles St, 02114, Boston, MA, USA. amy_juliano@meei.harvard.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeIncomplete partition type II (IP-II) is characterized by specific histological features and radiological appearance. It may occur in isolation or in association with an enlarged vestibular aqueduct (EVA). Among those with IP-II and EVA, a subset has a diagnosis of Pendred syndrome. This study aimed to explore the prevalence of isolated IP-II, IP-II with EVA, and cases with a genetic or syndromic basis in our cohort.

methodsFrom a large, multicentre database of dysplastic cochleae (446 patients, 892 temporal bones), those with imaging features of IP-II were examined in detail, including whether there was a genetic or syndromic association.

resultsA total of 78 patients with IP-II were identified. Among these, 55 patients had bilateral IP-II and EVA (only 12 with typical Mondini triad), 8 with bilateral IP-II and normal VA, 2 with bilateral IP-II and unilateral EVA, and 13 with unilateral IP-II (9 with unilateral EVA). Among the group with bilateral IP-II and bilateral EVA in whom genetic analysis was available, 14 out of 29 (48%) had SLC26A4 mutations and a diagnosis of Pendred syndrome, 1 had a FOXI1 mutation, and a few other genetic abnormalities; none had KCNJ10 pathogenic variants.

conclusionBilateral IP-II-bilateral EVA may be seen in the context of Pendred syndrome (SLC26A4 or FOXI1 mutations) but, in the majority of our cohort, no genetic abnormalities were found, suggesting the possibility of unknown genetic associations. IP-II in isolation (without EVA) is favored to be genetic when bilateral, although the cause is often unknown.

Indexed as

Hearing Loss, SensorineuralVestibular AqueductAdolescentAdultAgedChildChild, PreschoolFemaleGoiter, NodularHumansInfantMaleMiddle AgedMutationSulfate TransportersSLC26A4 protein, humanSulfate TransportersDiagnostic imagingEnlarged vestibular aqueductGoiter-deafness syndromeHearing lossIncomplete partition type IIIP-IIPendred syndrome

Identifiers

PMID38833161

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