Detection of epidermal thickening in GJB2 carriers with epidermal US1

PierPaolo Guastalla, Veronica Ileana Guerci, Antonella Fabretto, Flavio Faletra, Domenico Leonardo Grasso, Elisabetta Zocconi, Despina Stefanidou, Pio D'Adamo, Luca Ronfani, Marcella Montico, Marcello Morgutti, Paolo Gasparini

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Purpose: To measure epidermal thickness by using skin ultrasonography (US) in a series of healthy control subjects and obligate carriers for the worldwide most frequent form of congenital hearing loss owing to the mutated alleles of the connexin 26 gene (GJB2). Materials and Methods: The patent for the protocol, coupled with a new sonographic probe specifically designed to analyze epidermal thickness and a dedicated algorithm to classify individuals in groups, is pending. Institutional ethics committee approval and patient consent were obtained. After a preliminary study in 23 subjects aimed to define the best body site and instrument and protocol for US, a total of 303 individuals (237 healthy subjects, 51 carriers, and 15 homozygotes) were tested at midline forehead by using a linear large-band probe with a frequency ranging from 6 to 15 MHz to determine epidermal thickness. Variance and linear regression analyses were performed. Regression coefficients were then used to obtain measurements of thickness corrected for age and sex. Results: GJB2 obligate carriers had a significant increase in epidermal thickness compared with control subjects. GJB2 status explains about 50.0% of this variability, whereas an additional 25.0% is explained by sex and age. Results led to the development of a possible screening protocol with a 98.0% sensitivity and 92.8% specificity in subjects aged 20-80 years, with a likelihood ratio of a positive test of 14:1. Even better results (100% sensitivity and 98.9% specificity) were obtained in an analysis of people of only reproductive age. Conclusion: Epidermal thickening in the white population owing to GJB2 carrier status can be detected by using US. This measurement could provide a simple, noninvasive, rapid, and sensitive test for carrier screening.

Original languageEnglish
Pages (from-to)280-286
Number of pages7
JournalRadiology
Volume251
Issue number1
DOIs
Publication statusPublished - Apr 2009

Fingerprint

Ultrasonography
Healthy Volunteers
Sensitivity and Specificity
Ethics Committees
Forehead
Homozygote
Hearing Loss
Linear Models
Alleles
Regression Analysis
Skin
Population
Genes
Connexin 26

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

Detection of epidermal thickening in GJB2 carriers with epidermal US1. / Guastalla, PierPaolo; Guerci, Veronica Ileana; Fabretto, Antonella; Faletra, Flavio; Grasso, Domenico Leonardo; Zocconi, Elisabetta; Stefanidou, Despina; D'Adamo, Pio; Ronfani, Luca; Montico, Marcella; Morgutti, Marcello; Gasparini, Paolo.

In: Radiology, Vol. 251, No. 1, 04.2009, p. 280-286.

Research output: Contribution to journalArticle

Guastalla, P, Guerci, VI, Fabretto, A, Faletra, F, Grasso, DL, Zocconi, E, Stefanidou, D, D'Adamo, P, Ronfani, L, Montico, M, Morgutti, M & Gasparini, P 2009, 'Detection of epidermal thickening in GJB2 carriers with epidermal US1', Radiology, vol. 251, no. 1, pp. 280-286. https://doi.org/10.1148/radiol.2511080912
Guastalla, PierPaolo ; Guerci, Veronica Ileana ; Fabretto, Antonella ; Faletra, Flavio ; Grasso, Domenico Leonardo ; Zocconi, Elisabetta ; Stefanidou, Despina ; D'Adamo, Pio ; Ronfani, Luca ; Montico, Marcella ; Morgutti, Marcello ; Gasparini, Paolo. / Detection of epidermal thickening in GJB2 carriers with epidermal US1. In: Radiology. 2009 ; Vol. 251, No. 1. pp. 280-286.
@article{1737c46a18c04e3f9fb7a8736b975ec9,
title = "Detection of epidermal thickening in GJB2 carriers with epidermal US1",
abstract = "Purpose: To measure epidermal thickness by using skin ultrasonography (US) in a series of healthy control subjects and obligate carriers for the worldwide most frequent form of congenital hearing loss owing to the mutated alleles of the connexin 26 gene (GJB2). Materials and Methods: The patent for the protocol, coupled with a new sonographic probe specifically designed to analyze epidermal thickness and a dedicated algorithm to classify individuals in groups, is pending. Institutional ethics committee approval and patient consent were obtained. After a preliminary study in 23 subjects aimed to define the best body site and instrument and protocol for US, a total of 303 individuals (237 healthy subjects, 51 carriers, and 15 homozygotes) were tested at midline forehead by using a linear large-band probe with a frequency ranging from 6 to 15 MHz to determine epidermal thickness. Variance and linear regression analyses were performed. Regression coefficients were then used to obtain measurements of thickness corrected for age and sex. Results: GJB2 obligate carriers had a significant increase in epidermal thickness compared with control subjects. GJB2 status explains about 50.0{\%} of this variability, whereas an additional 25.0{\%} is explained by sex and age. Results led to the development of a possible screening protocol with a 98.0{\%} sensitivity and 92.8{\%} specificity in subjects aged 20-80 years, with a likelihood ratio of a positive test of 14:1. Even better results (100{\%} sensitivity and 98.9{\%} specificity) were obtained in an analysis of people of only reproductive age. Conclusion: Epidermal thickening in the white population owing to GJB2 carrier status can be detected by using US. This measurement could provide a simple, noninvasive, rapid, and sensitive test for carrier screening.",
author = "PierPaolo Guastalla and Guerci, {Veronica Ileana} and Antonella Fabretto and Flavio Faletra and Grasso, {Domenico Leonardo} and Elisabetta Zocconi and Despina Stefanidou and Pio D'Adamo and Luca Ronfani and Marcella Montico and Marcello Morgutti and Paolo Gasparini",
year = "2009",
month = "4",
doi = "10.1148/radiol.2511080912",
language = "English",
volume = "251",
pages = "280--286",
journal = "Radiology",
issn = "0033-8419",
publisher = "Radiological Society of North America Inc.",
number = "1",

}

TY - JOUR

T1 - Detection of epidermal thickening in GJB2 carriers with epidermal US1

AU - Guastalla, PierPaolo

AU - Guerci, Veronica Ileana

AU - Fabretto, Antonella

AU - Faletra, Flavio

AU - Grasso, Domenico Leonardo

AU - Zocconi, Elisabetta

AU - Stefanidou, Despina

AU - D'Adamo, Pio

AU - Ronfani, Luca

AU - Montico, Marcella

AU - Morgutti, Marcello

AU - Gasparini, Paolo

PY - 2009/4

Y1 - 2009/4

N2 - Purpose: To measure epidermal thickness by using skin ultrasonography (US) in a series of healthy control subjects and obligate carriers for the worldwide most frequent form of congenital hearing loss owing to the mutated alleles of the connexin 26 gene (GJB2). Materials and Methods: The patent for the protocol, coupled with a new sonographic probe specifically designed to analyze epidermal thickness and a dedicated algorithm to classify individuals in groups, is pending. Institutional ethics committee approval and patient consent were obtained. After a preliminary study in 23 subjects aimed to define the best body site and instrument and protocol for US, a total of 303 individuals (237 healthy subjects, 51 carriers, and 15 homozygotes) were tested at midline forehead by using a linear large-band probe with a frequency ranging from 6 to 15 MHz to determine epidermal thickness. Variance and linear regression analyses were performed. Regression coefficients were then used to obtain measurements of thickness corrected for age and sex. Results: GJB2 obligate carriers had a significant increase in epidermal thickness compared with control subjects. GJB2 status explains about 50.0% of this variability, whereas an additional 25.0% is explained by sex and age. Results led to the development of a possible screening protocol with a 98.0% sensitivity and 92.8% specificity in subjects aged 20-80 years, with a likelihood ratio of a positive test of 14:1. Even better results (100% sensitivity and 98.9% specificity) were obtained in an analysis of people of only reproductive age. Conclusion: Epidermal thickening in the white population owing to GJB2 carrier status can be detected by using US. This measurement could provide a simple, noninvasive, rapid, and sensitive test for carrier screening.

AB - Purpose: To measure epidermal thickness by using skin ultrasonography (US) in a series of healthy control subjects and obligate carriers for the worldwide most frequent form of congenital hearing loss owing to the mutated alleles of the connexin 26 gene (GJB2). Materials and Methods: The patent for the protocol, coupled with a new sonographic probe specifically designed to analyze epidermal thickness and a dedicated algorithm to classify individuals in groups, is pending. Institutional ethics committee approval and patient consent were obtained. After a preliminary study in 23 subjects aimed to define the best body site and instrument and protocol for US, a total of 303 individuals (237 healthy subjects, 51 carriers, and 15 homozygotes) were tested at midline forehead by using a linear large-band probe with a frequency ranging from 6 to 15 MHz to determine epidermal thickness. Variance and linear regression analyses were performed. Regression coefficients were then used to obtain measurements of thickness corrected for age and sex. Results: GJB2 obligate carriers had a significant increase in epidermal thickness compared with control subjects. GJB2 status explains about 50.0% of this variability, whereas an additional 25.0% is explained by sex and age. Results led to the development of a possible screening protocol with a 98.0% sensitivity and 92.8% specificity in subjects aged 20-80 years, with a likelihood ratio of a positive test of 14:1. Even better results (100% sensitivity and 98.9% specificity) were obtained in an analysis of people of only reproductive age. Conclusion: Epidermal thickening in the white population owing to GJB2 carrier status can be detected by using US. This measurement could provide a simple, noninvasive, rapid, and sensitive test for carrier screening.

UR - http://www.scopus.com/inward/record.url?scp=64949115338&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=64949115338&partnerID=8YFLogxK

U2 - 10.1148/radiol.2511080912

DO - 10.1148/radiol.2511080912

M3 - Article

C2 - 19190252

AN - SCOPUS:64949115338

VL - 251

SP - 280

EP - 286

JO - Radiology

JF - Radiology

SN - 0033-8419

IS - 1

ER -