No abstract

The oral-facial-digital syndromes (OFDS) represent a heterogenous group of disorders characterized by oral malformation, facial anomalies, and digital anomalies. Type II OFDS was reported by Mohr in 1941. Mohr syndrome is an autosomal recessive inherited disease characterized by median cleft lip, poly lobed tongue, absence of medial incisors, and polydactyly of hands and feet. Some other different expressive types of OFDS cases have been reported, and identified with 11 different clinical entities up to the present. Until now, only three cases of OFDS II in Japanese patients have been detected except for our patient. At this time, we observed a Japanese patient of Mohr syndrome with median cleft lip and tongue, hypertrophied frenula, absence of left medial incisor, and bilateral bifidity of great toe. Lip and tongue plasty was performed at 7 months after birth and toe plasty was done at 11 months with good results.

A bilaminar wound dressing composed of an outer membrane and an inner three-dimensional matrix of a fabric or a sponge may be considered to constitute an ideal structure that promotes wound healing: the outer membrane prevents body fluid loss, controls water evaporation, and protects the wound surface from bacterial invasion, and the inner matrix encourages adherence by tissue growth into the matrix. Using this concept, we developed a biosynthetic wound dressing with a drug delivery capability. This medicated wound dressing is composed of a spongy sheet of a chitosane derivative and collagen mixture that is laminated to an antimicrobial-impregnated polyurethane membrane. In this study, a gentamycin sulfate-impregnated wound dressing was prepared and evaluated. The antimicrobial efficacy of this wound dressing was examined on an agar plate seeded with Pseudomonas aeruginosa. Also, the cytotoxicity of an antimicrobial released from this wound dressing was examined in an in vitro system with cultured skin substitutes. Both in vitro tests have shown that this wound dressing is capable of suppressing bacterial growth and minimizing cellular damage. In addition, in the treatment of wounds inflicted on rats and rabbits, this wound dressing was shown to be efficacious in covering full-thickness and split-thickness skin defects. Finally, the efficacy of this wound dressing was evaluated in a nonrandomized open-label study of 31 clinical cases. In 31 cases treated with this wound dressing, good or excellent wound healing was achieved.

The authors developed a cultured dermal substitute (CDS) composed of a spongy collagen containing cultured fibroblasts. The cultured fibroblasts derived from Sprague Dawley rat skin were seeded on a spongy collagen at a density of 5 x 10(5) cells cm(-2) and cultured for 7 days. This CDS was applied to the debrided wound of full-thickness burn which was inflicted experimentally on the dorsum of Wister rat, and then the wound conditions were observed over a period of 2 weeks. The comparative study was conducted using an acellular spongy collagen as well as a commercially available temporary wound dressing, Biobrane, since a different type of cultured dermal substitute, Dermagraft-TC, is composed of Biobrane, whose inner site is combined with cultured fibroblasts. Each covering material was applied on the debrided wound area and exchanged by new one 1 week later. When the debrided wound was covered with Biobrane, a small portion of necrotic tissue was observed 1 week after application, and the granulation tissue formation was greatly delayed. This wound area showed a poor granulation tissue even 2 weeks later. On the contrary, when covered with an acellular spongy collagen, no necrotic tissue was observed. This wound area showed a more or less irregular granulation tissue at 1 week and then a healthy granulation tissue 2 weeks later. This preliminary comparative study suggests that an acellular spongy collagen is able to function as a more suitable matrix for CDS, compared with Biobrane. The wound area covered with a CDS assumed a moist, shiny, and hyperaemic appearance 1 week after application showing a healthy granulation tissue. The macroscopic evaluations indicate that the CDS is able to prepare a healthy granulation tissue at an earlier stage, compared with the acellular spongy collagen. In addition, the histologic views demonstrate that the CDS is able to prepare a thicker and denser granulation tissue, compared with the acellular spongy collagen. Although the fate of cultured fibroblasts in the CDS on the wound surface within 1 week is not clear, these findings suggest that fibroblasts in CDS are able to provide excellent conditions for wound healing.

Recently, mutations of the fibroblast growth factor receptor ( FGFR ) genes have been detected in syndromic craniosynostosis. We examined nucleotide sequences of FGFR2 in Japanese craniosynostosis patients (Crouzon syndrome: 9 cases; Apert syndrome: 6 cases; scaphocephaly: 3 cases as non-syndromic patients) by polymerase chain reaction (PCR) followed by direct sequencing methods. The results demonstrated FGFR2 heterozygous mutations at codons 252, 290 of exon 7, and at codon 342, 354 of exon 9 in Crouzon syndromes. In Apert syndrome patients, Ser252Trp and Pro253Arg were detected in five and one patients, respectively. No mutation was detected in one case of Crouzon, all cases of scaphocephaly and healthy individuals. Thus far sequence analysis of FGFR2 in syndromic craniosynostosis has been reported in many white patients, whereas in Japanese only several cases have been studied. The current study with 18 patients confirmed that a similar series of mutations occur in Japanese patients as in white patients regardless of ethnicity and environment. The frequency of the mutation was 82% (9/11 cases) in Japanese Crouzon patients. The ratio of S252W:P253R was 5 : 1 in Japanese Apert patients. Moreover, in Japanese Apert patients, complication rate of cleft palate was 60% for mutation of Ser252Trp and 0 of 2 patients for Pro253Arg, with their syndactyly score being 4.90 and 5.50, respectively.