Detection of Epidermal Thickening in GJB2 Carriers with Epidermal US1
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 fo...
Gespeichert in:
| Veröffentlicht in: | Radiology 2009-04, Vol.251 (1), p.280 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 1 |
| container_start_page | 280 |
| container_title | Radiology |
| container_volume | 251 |
| creator | 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 |
| description | 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.
© RSNA, 2009 |
| doi_str_mv | 10.1148/radiol.2511080912 |
| format | Article |
| fullrecord | <record><control><sourceid>highwire</sourceid><recordid>TN_cdi_highwire_smallpub3_radiology251_1_280</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>radiology251_1_280</sourcerecordid><originalsourceid>FETCH-LOGICAL-h107t-a0a10d3ebae5de8dff82baad0304515f20181073362896b3b1870734f30ac8073</originalsourceid><addsrcrecordid>eNpNkMFOwzAQRC0EoqXwAdz8AaTs2nGzOUIIBVSJA-05cmI7MYSkcoKq_j2RyoHTzEhPo9EwdouwRIzpPmjj-3YpFCIQpCjO2ByVSCKUqM7ZHEDKiGJMZ-xqGD4BMFaUXLIZppiCUGLO8ic72mr0fcd7x_O9NzZ865ZvG1992c53NfcdX789Cp7pELwNAz_4sfmH7j7wml043Q725k8XbPecb7OXaPO-fs0eNlGDkIyRBo1gpC21VcaScY5EqbUBCbFC5QQgTaCUK0HpqpQlUjLF2EnQFU1uwe5OvY2vm4MPthimBe3-p5TF6Yy-Pk53FFgIAvkL7yJR4g</addsrcrecordid><sourcetype>Publisher</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Detection of Epidermal Thickening in GJB2 Carriers with Epidermal US1</title><source>Alma/SFX Local Collection</source><source>EZB Electronic Journals Library</source><creator>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</creator><creatorcontrib>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</creatorcontrib><description>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.
© RSNA, 2009</description><identifier>ISSN: 0033-8419</identifier><identifier>EISSN: 1527-1315</identifier><identifier>DOI: 10.1148/radiol.2511080912</identifier><identifier>PMID: 19190252</identifier><language>eng</language><publisher>Radiological Society of North America</publisher><ispartof>Radiology, 2009-04, Vol.251 (1), p.280</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27929,27930</link.rule.ids></links><search><creatorcontrib>PierPaolo Guastalla</creatorcontrib><creatorcontrib>Veronica Ileana Guerci</creatorcontrib><creatorcontrib>Antonella Fabretto</creatorcontrib><creatorcontrib>Flavio Faletra</creatorcontrib><creatorcontrib>Domenico Leonardo Grasso</creatorcontrib><creatorcontrib>Elisabetta Zocconi</creatorcontrib><creatorcontrib>Despina Stefanidou</creatorcontrib><creatorcontrib>Pio D'Adamo</creatorcontrib><creatorcontrib>Luca Ronfani</creatorcontrib><creatorcontrib>Marcella Montico</creatorcontrib><creatorcontrib>Marcello Morgutti</creatorcontrib><creatorcontrib>Paolo Gasparini</creatorcontrib><title>Detection of Epidermal Thickening in GJB2 Carriers with Epidermal US1</title><title>Radiology</title><description>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.
© RSNA, 2009</description><issn>0033-8419</issn><issn>1527-1315</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid/><recordid>eNpNkMFOwzAQRC0EoqXwAdz8AaTs2nGzOUIIBVSJA-05cmI7MYSkcoKq_j2RyoHTzEhPo9EwdouwRIzpPmjj-3YpFCIQpCjO2ByVSCKUqM7ZHEDKiGJMZ-xqGD4BMFaUXLIZppiCUGLO8ic72mr0fcd7x_O9NzZ865ZvG1992c53NfcdX789Cp7pELwNAz_4sfmH7j7wml043Q725k8XbPecb7OXaPO-fs0eNlGDkIyRBo1gpC21VcaScY5EqbUBCbFC5QQgTaCUK0HpqpQlUjLF2EnQFU1uwe5OvY2vm4MPthimBe3-p5TF6Yy-Pk53FFgIAvkL7yJR4g</recordid><startdate>20090401</startdate><enddate>20090401</enddate><creator>PierPaolo Guastalla</creator><creator>Veronica Ileana Guerci</creator><creator>Antonella Fabretto</creator><creator>Flavio Faletra</creator><creator>Domenico Leonardo Grasso</creator><creator>Elisabetta Zocconi</creator><creator>Despina Stefanidou</creator><creator>Pio D'Adamo</creator><creator>Luca Ronfani</creator><creator>Marcella Montico</creator><creator>Marcello Morgutti</creator><creator>Paolo Gasparini</creator><general>Radiological Society of North America</general><scope/></search><sort><creationdate>20090401</creationdate><title>Detection of Epidermal Thickening in GJB2 Carriers with Epidermal US1</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-h107t-a0a10d3ebae5de8dff82baad0304515f20181073362896b3b1870734f30ac8073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>PierPaolo Guastalla</creatorcontrib><creatorcontrib>Veronica Ileana Guerci</creatorcontrib><creatorcontrib>Antonella Fabretto</creatorcontrib><creatorcontrib>Flavio Faletra</creatorcontrib><creatorcontrib>Domenico Leonardo Grasso</creatorcontrib><creatorcontrib>Elisabetta Zocconi</creatorcontrib><creatorcontrib>Despina Stefanidou</creatorcontrib><creatorcontrib>Pio D'Adamo</creatorcontrib><creatorcontrib>Luca Ronfani</creatorcontrib><creatorcontrib>Marcella Montico</creatorcontrib><creatorcontrib>Marcello Morgutti</creatorcontrib><creatorcontrib>Paolo Gasparini</creatorcontrib><jtitle>Radiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>PierPaolo Guastalla</au><au>Veronica Ileana Guerci</au><au>Antonella Fabretto</au><au>Flavio Faletra</au><au>Domenico Leonardo Grasso</au><au>Elisabetta Zocconi</au><au>Despina Stefanidou</au><au>Pio D'Adamo</au><au>Luca Ronfani</au><au>Marcella Montico</au><au>Marcello Morgutti</au><au>Paolo Gasparini</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of Epidermal Thickening in GJB2 Carriers with Epidermal US1</atitle><jtitle>Radiology</jtitle><date>2009-04-01</date><risdate>2009</risdate><volume>251</volume><issue>1</issue><spage>280</spage><pages>280-</pages><issn>0033-8419</issn><eissn>1527-1315</eissn><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.
© RSNA, 2009</abstract><pub>Radiological Society of North America</pub><pmid>19190252</pmid><doi>10.1148/radiol.2511080912</doi></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0033-8419 |
| ispartof | Radiology, 2009-04, Vol.251 (1), p.280 |
| issn | 0033-8419 1527-1315 |
| language | eng |
| recordid | cdi_highwire_smallpub3_radiology251_1_280 |
| source | Alma/SFX Local Collection; EZB Electronic Journals Library |
| title | Detection of Epidermal Thickening in GJB2 Carriers with Epidermal US1 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-13T16%3A34%3A32IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-highwire&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Detection%20of%20Epidermal%20Thickening%20in%20GJB2%20Carriers%20with%20Epidermal%20US1&rft.jtitle=Radiology&rft.au=PierPaolo%20Guastalla&rft.date=2009-04-01&rft.volume=251&rft.issue=1&rft.spage=280&rft.pages=280-&rft.issn=0033-8419&rft.eissn=1527-1315&rft_id=info:doi/10.1148/radiol.2511080912&rft_dat=%3Chighwire%3Eradiology251_1_280%3C/highwire%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/19190252&rfr_iscdi=true |