yoshimura yoko

Orbital hypertelorism is defined as an abnormally wide bony interorbital distance. The aims of surgery are both correction of ocular dystopia and cosmetic reconstruction of the nasal crest. Marked improvement of visual function, especially binocular vision, by surgery is not expected. Here we report that surgical treatment unexpectedly resulted in a significant visual improvement for a 13-year-old boy with orbital hypertelorism who also had bilateral cleft lip and palate. (C) 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Cranium bifidum is a congenital anomaly caused by abnormal development of the cephalic neural tube. We report two cases of cranium bifidum occultum with defects of both the frontal bone and anterior cranial base accompanied by infection and enlargement of frontonasal dermoid cysts. Surgery successfully interrupted the communication between the intracranial space and nasal cavity by inserting a pericranial flap after removal of the dermoid cysts. (C) 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

We studied the effect and validity of medical intervention for submucous cleft palate (SMCP) in our center retrospectively.<br>Object: Fifty SMCP cases were referred to our center between April 1992 and December 2008. Of these SMCP cases, 36 were examined, and 14 with complications which affected operation and speech therapy were excluded.<br>Method: SMCP is defined as a congenital deformity in which there is imperfect muscle union across the velum, if they do not satisfy the Calnan's triad. Their gender, age at first visit, chief complaint, complications, Calnan's triad, length and mobility of soft palate, and medical interventions (operation and speech therapy) were investigated.<br>Results: There were 17 males and 19 females, and the age at first visit varied from 8 days to 6 years and 3 months. Chief complaints were morphologic defects such as cleft in 21 cases and functional disability such as speech disturbance in 15. Complications were found in 22 cases; chief complications were as below: mental retardation in 11 cases, 22 q 11.2 deletion syndrome in 4, first and second branchial arch syndrome in 4 (2 cases with auditory imperfections), and Robin's sequence in 3 (combined OSAS in one). Clinical symptoms were: imperfect muscle union across the velum in 36 cases, uvula bifida in 28, deficiency in the bone of the posterior edge of the hard palate in 22, and all of the Calnan's triad in 20. Eighteen cases showed short palate, and palatal lift was poor in 14 cases. Operation was necessary in 19 cases. In 17 cases without surgery, 12 required speech therapy. The effects of speech therapy were: improvement in 10 cases and slight improvement in 2. Satisfactory speech was acquired before starting school, excluding a case speech therapy was started after 5 years. In the operated cases, palatoplasty was performed. In one case, a pharyngeal flap was combined. In 15 cases speech therapy was necessary. The effect of medical intervention was: improvement in 12 cases, slight improvement in one, and no change in 2. For the 2 no-change cases, a PLP was applied in one, and a pharyngeal flap was applied additionally in the other. In 15 cases with surgery, excluding the 2 no-change cases and 2 cases operated after 5 years, satisfactory speech was acquired before starting school.<br>Conclusion: Excluding the 2 cases in which the speech evaluation after primary operation showed no change, the other cases could acquire satisfactory speech before starting school, provided medical intervention was started within 5 years. We conclude that the medical intervention in our center is appropriate.

Axillary osmidrosis (AO) is caused by apocrine glands secretions that are converted to odouriferous compounds by bacteria. A potential link between AO and wet earwax type has been implicated by phenotype-based analysis. Recently, a non-synonymous single nucleotide polymorphism (SNP) 538G&gt;A (Gly180Arg) in the human adenosine triphosphate (ATP)-binding cassette (ABC) transporter ABCC11 gene was found to determine the type of earwax. In this context, we examined a relationship between the degree of AO and the ABCC11 genotype. We have genotyped the SNP 538G&gt;A in a total of 82 Japanese individuals (68 volunteers and 14 AO patients) by both DNA sequencing and the recently developed Smart Amplification Process (SmartAmp). The degree of AO in Japanese subjects was associated with the genotype of the ABCC11 gene as well as wet earwax type. In most AO patients investigated in this study, the G/G and G/A genotypes well correlated with the degree of AO, whereas A/A did not. The specific SmartAmp assays developed for this study provided genotypes within 30 min directly from blood samples. In East Asian countries, AO is rather infrequent. Although the judgement of the degree of AO prevalence is subjective, the SNP 538G&gt;A in ABCC11 is a good genetic biomarker for screening for AO. The SmartAmp method-based genotyping of the ABCC11 gene would provide an accurate and practical tool for guidance of appropriate treatment and psychological management for patients. (C) 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

A clinico-statistical investigation was conducted with 1112 cleft lip and/or palate patients (excluded 18 cases in which data were inadequate) in the Cleft Lip and Palate Center, Fujita Health University Hospital, since its foundation in April 1992.<br>The results were as follows:<br>1) Primary cases were 1073, secondary cases were 39, and average number of patients registered per year was 75.5 from 1993 to 2006.<br>2) The distribution by cleft type was: 368 cases (33.1%) with unilateral CL (A) P, 279 cases (25.1%) with unilateral CL (A), 275 cases (24.7%) with CP, 157 cases (14.1%) with bilateral CL (A) P, 26 cases (2.3%) with bilateral CL (A), and 7 cases (0.6%) with others.<br>3) The average number of operations per year from 1993 to 2006 was as follows: chelioplasty (primary lip operation) 61.7, palatoplasty (one stage operation for CP) 13.1, palatoplasty (soft palate in two stage operation) 26.5, palatoplasty (hard palate in two stage operation) 23.4, secondary alveolar bone graft 17.8, and secondary operation for velopharyngeal incompetence 3.<br>4) The number of patients registered for speech evaluation and training was 741 until June 2007.