Detection of epidermal thickening in GJB2 carriers with epidermal US1

Radiology

Volumn 251, Issue 1, 2009, Pages 280-286

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

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c Symphony   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADULT; AGED; ANALYSIS OF VARIANCE; ARTICLE; CONGENITAL DEAFNESS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; ECHOGRAPHY; EPIDERMIS; FEMALE; FOREHEAD; GENE MUTATION; HETEROZYGOTE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; LINEAR REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; MEASUREMENT; MECHANICAL PROBE; PRIORITY JOURNAL; RELIABILITY; SCREENING TEST; SENSITIVITY AND SPECIFICITY; SKIN ECHOGRAPHY; SKINFOLD THICKNESS; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEARING LOSS; INCIDENCE; ITALY; MASS SCREENING; METHODOLOGY; MIDDLE AGED; REPRODUCIBILITY; RISK ASSESSMENT; RISK FACTOR; STATISTICS;

ADULT; AGED; AGED, 80 AND OVER; CONNEXINS; EPIDERMIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEARING LOSS; HETEROZYGOTE; HUMANS; INCIDENCE; ITALY; MALE; MASS SCREENING; MIDDLE AGED; REPRODUCIBILITY OF RESULTS; RISK ASSESSMENT; RISK FACTORS; SENSITIVITY AND SPECIFICITY; ULTRASONOGRAPHY; YOUNG ADULT;

EID: 64949115338     PISSN: 00338419     EISSN: 15271315     Source Type: Journal    
DOI: 10.1148/radiol.2511080912     Document Type: Article

References (16)

1. Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-1609.
2. Lucotte G, Dieterlen F. The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Test 2005;9:20-25.
3. Gasparini P, Rabionet R, Barbujani G, et al. High carrier frequency of the 35delG deafness mutation in European populations: Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 2000;8:19-23. (Pubitemid 30113791)
4. Roth EF Jr, Raventos-Suarez C, Rinaldi A, Nagel RL. Glucose-6-phosphate dehydrogenase deficiency inhibits in vitro growth of Plasmodium falciparum. Proc Natl Acad Sci U S A 1983;80:298-299.
5. Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MJ. Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 1994;266:107-109. (Pubitemid 24345328)
6. Meyer CG, Amedofu GK, Brandner JM, Pohland D, Timmann C, Horstmann RD. Selection for deafness? Nat Med 2002;8:1332-1333.
7. Man YK, Trolove C, Tattersall D, et al. A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol 2007;218:29-37.
8. Nouveau-Richard S, Monot M, Bastien P, de Lacharriere O. In vivo epidermal thickness measurement: ultrasound vs. confocal imaging. Skin Res Technol 2004;10:136-140.
9. Huang YP, Zheng YP, Leung SF, Mak AFT. Reliability of measurement of skin ultrasonic properties in vivo: a potential technique for assessing irradiated skin. Skin Res Technol 2007;13:55-61. (Pubitemid 46152453)
10. Gniadecka M, Gniadecki R, Serup J, Søndergaard J. Ultrasound structure and digital image analysis of the subepidermal low echogenic band in aged human skin: diurnal changes and interindividual variability. J Invest Dermatol 1994;102:362-365. (Pubitemid 24095504)
11. Davis A, Hind S. The impact of hearing impairment: a global health problem. Int J Pediatr Otorhinolaryngol 1999;49(suppl 1):S51-S54. (Pubitemid 29495882)
12. Rabionet R, Lopez-Bigas N, Arbones ML, Estivill X. Connexin mutations in hearing loss, dermatological and neurological disorders. Trends Mol Med 2002;8:205-212. (Pubitemid 34493637)
13. Cagle PE, Dyson M, Gajewski B, Lukert B. Can dermal thickness measured by ultrasound biomicroscopy assist in determining osteoporosis risk? Skin Res Technol 2007;13:95-100.
14. Chen L, Dyson M, Rymer J, Bolton PA, Young SR. The use of high-frequency diagnostic ultrasound to investigate the effect of hormone replacement therapy on skin thickness. Skin Res Technol 2001;7:95-97. (Pubitemid 32409576)
15. Moore TL, Lunt M, McManus B, Anderson ME, Herrick AL. Seventeen-point dermal ultrasound scoring system - a reliable measure of skin thickness in patients with systemic sclerosis. Rheumatology (Oxford) 2003;42:1559-1563. (Pubitemid 37508932)
16. Schou AJ, Thomsen K, Plomgaard AM, Wolthers OD. Methodological aspects of high-frequency ultrasound of skin in children. Skin Res Technol 2004;10:200-206. (Pubitemid 39077187)