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Oral mucosal microvascular network abnormalities in de novo mutation achondroplasia

De Felice, C; Parrini, S; Di Maggio, G; Laurini, Ricardo LU ; Shirriff, K; Bianciardi, G and Latini, G (2005) In Fractals 13(1). p.73-82
Abstract
Approximately 90% of achondroplasia (ACH) cases are the result of a de novo mutation, with no phenotypical markers for the unaffected ACH parents being known to date. Here, the hypothesis of the presence of an oral mucosal microvascular abnormality in ACH children and unaffected ACH parents was tested. Two-dimensional vascular network geometry was analyzed in 15 children with sporadic ACH, 30 unaffected parents of children with typical ACH phenotype, and 45 control subjects, using high-resolution photographs of the lower gingival and vestibular oral mucosa. The vascular networks of ACH patients and ACH parents exhibited higher D(1-46) (P <= 0.013) and D(1-15) (P <= 0.0032) fractal dimensions, higher minimum-path dimension (P <=... (More)
Approximately 90% of achondroplasia (ACH) cases are the result of a de novo mutation, with no phenotypical markers for the unaffected ACH parents being known to date. Here, the hypothesis of the presence of an oral mucosal microvascular abnormality in ACH children and unaffected ACH parents was tested. Two-dimensional vascular network geometry was analyzed in 15 children with sporadic ACH, 30 unaffected parents of children with typical ACH phenotype, and 45 control subjects, using high-resolution photographs of the lower gingival and vestibular oral mucosa. The vascular networks of ACH patients and ACH parents exhibited higher D(1-46) (P <= 0.013) and D(1-15) (P <= 0.0032) fractal dimensions, higher minimum-path dimension (P <= 0.0013), higher relative Lempel-Ziv (L-Z) complexity (P < 0.0001), and lower vessel-free area size (P < 0.00001) than controls. A vessel-free area size <= 56,832 mu m(2) and L-Z complexity > 0.62 showed 100%-sensitivity and 100%-specificity in identifying unaffected ACH parents. These findings indicate (1) how complexity measures can be used to discover biological differences not demonstrable with traditional measures, and (2) the presence of a previously unrecognized microvascular network abnormality in both ACH patients and unaffected parents of children with de novo mutation ACH. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
fractal, short limbed dwarfism, achondroplasia, extracellular matrix, marker
in
Fractals
volume
13
issue
1
pages
73 - 82
publisher
World Scientific
external identifiers
  • wos:000228034200007
  • scopus:17044432233
ISSN
1793-6543
DOI
10.1142/S0218348X05002714
language
English
LU publication?
yes
id
48a06f31-4db7-4286-9ec6-976c2fb2de85 (old id 247106)
date added to LUP
2007-08-20 16:27:04
date last changed
2017-01-01 04:58:00
@article{48a06f31-4db7-4286-9ec6-976c2fb2de85,
  abstract     = {Approximately 90% of achondroplasia (ACH) cases are the result of a de novo mutation, with no phenotypical markers for the unaffected ACH parents being known to date. Here, the hypothesis of the presence of an oral mucosal microvascular abnormality in ACH children and unaffected ACH parents was tested. Two-dimensional vascular network geometry was analyzed in 15 children with sporadic ACH, 30 unaffected parents of children with typical ACH phenotype, and 45 control subjects, using high-resolution photographs of the lower gingival and vestibular oral mucosa. The vascular networks of ACH patients and ACH parents exhibited higher D(1-46) (P &lt;= 0.013) and D(1-15) (P &lt;= 0.0032) fractal dimensions, higher minimum-path dimension (P &lt;= 0.0013), higher relative Lempel-Ziv (L-Z) complexity (P &lt; 0.0001), and lower vessel-free area size (P &lt; 0.00001) than controls. A vessel-free area size &lt;= 56,832 mu m(2) and L-Z complexity &gt; 0.62 showed 100%-sensitivity and 100%-specificity in identifying unaffected ACH parents. These findings indicate (1) how complexity measures can be used to discover biological differences not demonstrable with traditional measures, and (2) the presence of a previously unrecognized microvascular network abnormality in both ACH patients and unaffected parents of children with de novo mutation ACH.},
  author       = {De Felice, C and Parrini, S and Di Maggio, G and Laurini, Ricardo and Shirriff, K and Bianciardi, G and Latini, G},
  issn         = {1793-6543},
  keyword      = {fractal,short limbed dwarfism,achondroplasia,extracellular matrix,marker},
  language     = {eng},
  number       = {1},
  pages        = {73--82},
  publisher    = {World Scientific},
  series       = {Fractals},
  title        = {Oral mucosal microvascular network abnormalities in de novo mutation achondroplasia},
  url          = {http://dx.doi.org/10.1142/S0218348X05002714},
  volume       = {13},
  year         = {2005},
}