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Biomedical subjects

Kimie Ohyama

Publications and source records attributed to Kimie Ohyama.

At least 19 recordsLinked to original sources

Unique CCT repeats mediate transcription of the TWIST1 gene in mesenchymal cell lines.

TWIST1, a basic helix-loop-helix transcription factor, plays critical roles in embryo development, cancer metastasis and mesenchymal progenitor differentiation. Little is known about transcriptional regulation of TWIST1 expression. Here we identified DNA sequences responsible for TWIST1 expression in mesenchymal lineage cell lines. Reporter assays with TWIST1 promoter mutants defined the -102 to -74 sequences that are essential for TWIST1 expression in human and mouse mesenchymal cell lines. Tandem repeats of CCT, but not putative CREB and NF-kappaB sites in the sequences substantially supported activity of the TWIST1 promoter. Electrophoretic mobility shift assay demonstrated that the DNA sequences with the CCT repeats formed complexes with nuclear factors, containing, at least, Sp1 and Sp3. These results suggest critical implication of the CCT repeats in association with Sp1 and Sp3 factors in sustaining expression of the TWIST1 gene in mesenchymal cells.

Animals↗

Orthodontic treatment in a patient with Van der Woude's syndrome.

Van der Woude's syndrome (VDW; #OMIM 119300) is an autosomal dominant disease characterized by cleft lip and/or palate and lower lip pit (fistula). The precise skeletal characteristics are unclear, and there have been no case reports of orthodontic treatment of patients with VDW. The Japanese girl whose treatment is reported here had VDW, including bilateral cleft lip and palate and bilateral symmetric lower lip pits. Orthodontic treatment started when she was just 3 years old, with a removable maxillary expansion appliance, followed by an edgewise multibracket appliance in both arches. Retention began at 11 years of age, and a secondary bone graft was performed for the alveolar cleft. She received prosthetic treatment and achieved a desirable occlusion at 18 years of age. Early intervention helped achieve a satisfactory treatment result for our patient. In contrast, her mother also had VDW, with a severe Class III skeletal pattern, but she had not been treated orthodontically; she had an anterior and lateral crossbite even after prosthetic treatment. The pretreatment characteristics of 4 other subjects with VDW are discussed; they show wide variations in the sizes of the maxilla and the mandible, suggesting that a common skeletal pattern is not generally seen in VDW.

Adult↗

Simultaneous maxillary distraction osteogenesis using a twin-track distraction device combined with alveolar bone grafting in cleft patients: preliminary report of a technique.

The simultaneous use of cleft reduction and maxillary advancement by distraction osteogenesis has not been applied routinely because of the difficulty in three-dimensional control and stabilization of the transported segments. This report describes a new approach of simultaneous bilateral alveolar cleft reduction and maxillary advancement by distraction osteogenesis combined with autogenous bone grafting. A custom-made Twin-Track device was used to allow bilateral alveolar cleft closure combined with simultaneous maxillary advancement, using distraction osteogenesis and a rigid external distraction system in a bilateral cleft lip and palate patient. After a maxillary Le Fort I osteotomy, autogenous iliac bone graft was placed in the cleft spaces before suturing. A latency period of six days was observed before activation. The rate of activation was one mm/d for the maxillary advancement and 0.5 mm/d for the segmental transport. Accordingly, the concave facial appearance was improved with acceptable occlusion, and complete bilateral cleft closure was attained. No adjustments were necessary to the vector of the transported segments during the activation and no complications were observed. The proposed Twin-Track device, based on the concept of track-guided bone transport, permitted three-dimensional control over the distraction processes allowing simultaneous cleft closure, maxillary distraction, and autogenous bone grafting. The combined simultaneous approach is extremely advantageous in correcting severe deformities, reducing the number of surgical interventions and, consequently, the total treatment time.

Adult↗

Skeletal characteristics and treatment outcome of five patients with Robin sequence.

OBJECTIVE: To examine the variation in the precise skeletal characteristics and the treatment outcomes of five Japanese Robin sequence cases. MATERIALS AND METHODS: The birth histories and orthodontic records of five Japanese Robin sequence patients were collected and analyzed. RESULTS: All cases had a retrognathic appearance with small SNA and SNB angles. They had significantly steep mandibular planes with lingual tipped incisors in both arches. The gonial angles in two cases were within the Japanese norm, whereas the remaining three showed significantly enlarged angles. Moreover, all cases showed a significantly shorter ramus length, but the mandibular body was short in only two cases. All had moderate or severe crowding in both arches, and therefore extraction of lateral dentition or lateral incisors was performed in conjunction with orthodontic treatment. An edgewise multibracket appliance was placed, and labial tipping of the lower incisors was performed in all cases. All obtained normal functional occlusion after active treatment, but the retrognathic appearance remained in most cases. CONCLUSIONS: The present cases with Robin sequence showed variation in the gonial angle and mandibular body length, although all commonly exhibited smaller SNA and SNB angles with significantly steep mandibular planes. Significant labial tipping of the lower incisors was required during the active treatment, and all cases finally obtained functional occlusion, indicating the relatively good prognosis on the occlusion of this sequence.

Cephalometry↗

Changes in nasorespiratory function in association with maxillary distraction osteogenesis in subjects with cleft lip and palate.

OBJECTIVE: The current study aimed to determine how nasorespiratory function changes in association with maxillary distraction osteogenesis (DO). Furthermore, with regard to impaired nasorespiratory function, the possibility of a relationship between the cleft side and laterality and any effect of maxillary distraction osteogenesis was investigated. DESIGN: In this descriptive, prospective clinical report, subjective and objective data regarding nasorespiratory function before and after maxillary distraction osteogenesis were compared. SUBJECTS: Data from 13 subjects with cleft lip and palate were used. Subjects had a severe maxillary deficiency and underwent distraction osteogenesis using a rigid external device system. OUTCOME MEASURES: The subjective measure was the score on a questionnaire regarding nasorespiratory function using a visual analog scale. The objective measure was nasal resistance. RESULTS: The visual analog scale score for two items significantly decreased just after distraction osteogenesis. Nasal resistance also significantly decreased 1 year after distraction osteogenesis. Moreover, nasal resistance on the cleft side was significantly greater than that on the noncleft side just before and 1 year after distraction osteogenesis. There was a significant positive correlation between changes in the visual analog scale score and nasal resistance. CONCLUSIONS: These results suggest that nasorespiratory function changes in association with maxillary distraction osteogenesis in subjects with cleft lip and palate. Moreover, it appears that nasal obstruction on the cleft side does not change in subjects with unilateral cleft lip and palate.

Adolescent↗

Distinctive cortical articulatory representation in cleft lip and palate: a preliminary functional magnetic resonance imaging study.

OBJECTIVE: To investigate cortical representation of articulation of the bilabial plosive in patients with cleft lip and palate. DESIGN: We examined cortical representation for /pa/-articulation in cleft lip and palate patients using blood oxygenation level-dependent functional magnetic resonance imaging. SUBJECTS: Data from four postsurgical adult cleft lip and palate patients were compared with those from six healthy volunteers. RESULTS: Activation foci were found in the bilateral primary sensorimotor cortex in all cleft lip and palate patients, as in the controls. The sensorimotor cortex ipsilateral to the side of cleft lip and palate showed greater activation in unilateral cleft lip and palate patients, whereas the sensorimotor cortex contralateral to the side on which cheiloplasty had been performed earlier showed greater activation in a bilateral cleft lip and palate patient. CONCLUSIONS: The results suggest that there may be an ipsilateral dominance in cortical representation during bilabial articulation to the side of the cleft in the upper lip.

Adolescent↗

A case of oculo-auriculo-vertebral spectrum with long-term and comprehensive management.

AIM: To show that a patient with severe oculo-auriculo-vertebral spectrum can achieve satisfactory occlusion and facial appearance through long-term and comprehensive management. METHODS: A patient, with oculo-auriculo-vertebral spectrum, had bilateral cleft lip and palate, macrostomia, malformed pinna, and unilateral hypoplasia of the zygomatic arch and mandible, which resulted in an asymmetric facial appearance characteristic of hemifacial microsomia. After bilateral lip repair and palatal closure, surgical repair of the pinna, nose, and cheiloplasty was performed. The patient was seen at the authors' dental hospital at 12 years 2 months of age. After lateral expansion of the maxillary arch, an edgewise multibracket appliance was placed and presurgical orthodontic treatment was begun. Combined maxillary and mandibular osteotomies were performed when the patient was 19 years of age, followed by genioplasty, multiple repair of the mandibular body and lip, and soft tissue transplantation to the left cheek, to improve facial symmetry. RESULTS AND CONCLUSION: After prosthetic treatment at 23 years of age, a stable and functional occlusion with a satisfactory facial appearance was achieved.

Cephalometry↗

Effects of mandibular advancement on brain activation during inspiratory loading in healthy subjects: a functional magnetic resonance imaging study.

Oral appliances have been a popular treatment option for subjects with obstructive sleep apnea. However, little information is available on how brain activation induced by respiratory challenge is modulated by mandibular advancement with these appliances. We hypothesized that the brain activation caused by respiratory stress may be alleviated by mandibular advancement. Respiratory stress was induced in 12 healthy subjects by resistive inspiratory loading. The effects of mandibular advancement during resistive inspiratory loading were assessed subjectively by using a visual analog scale. These effects were also evaluated objectively by using blood oxygenation level-dependent functional magnetic resonance imaging. The score for the visual analog scale significantly decreased with mandibular advancement. Cortical deactivation, in association with mandibular advancement, was localized to several specific regions, including the left cingulate gyrus and the bilateral prefrontal cortexes. These regions are known to be involved in respiratory control. Our results suggest that mandibular advancement with an oral appliance appears to be useful for reducing respiratory stress, based on both subjective and neuronal criteria.

Adult↗

The representation of the human oral area in the somatosensory cortex: a functional MRI study.

The tactile sensation of the teeth is involved in various oral functions, such as mastication and speech. Using functional magnetic resonance imaging, we investigated the cortical sensory representation of the oral area, including the teeth. First, we identified the somatotopic representation of the lips, teeth and tongue in the postcentral gyrus (GpoC). Tactile stimuli were applied to the lower lip, tongue and teeth. The foci activated by each stimulus were characterized by the center of gravity (COG) of activated areas. Secondly, we examined the rostro-caudal changes in the somatotopic organization in the GPoC in terms of the overlap between each sensory representation. In the rostral portion of the GPoC, the COG of the representation of teeth was located significantly superior to that of the tongue and inferior to that of the lip, consistent with the classical 'sensory homunculus' proposed by Penfield; however, this somatotopic representation became unclear in the middle and caudal portions of the GPoC. The overlap between each representation in the middle and caudal portions of the GPoC was significantly greater than that in the rostral portion of the GPoC. These findings support the theory that the input from oral structures converges hierarchically across the primary somatosensory cortex.

Adult↗

Functional analysis of natural mutations in two TWIST protein motifs.

The basic helix-loop-helix protein Twist, a transcriptional repressor, is essential for embryogenesis in both invertebrates and vertebrates. Haploinsufficiency of the human TWIST1 gene, which causes the craniosynostosis disorder Saethre-Chotzen syndrome (SCS), is related to failure to repress transcription of CDKN1A (which encodes p21/WAF1/CIP1), promoting osteoblast differentiation. We have examined the functional significance of natural TWIST1 variants present in craniosynostosis patients and in their healthy relatives. Both deletion and duplication variants of the glycine-rich tract Gly5AlaGly5 inhibited E2A (E12/E47)-dependent transcription of CDKN1A to a similar degree as wild-type protein, indicating that the length of this glycine tract is not critical for efficient transcriptional repression. We also evaluated a newly identified heterozygous TWIST1 variant (c.115C>G, encoding p.Arg39Gly), located within a putative nuclear localization signal (NLS), that was present in a child with mild SCS and her clinically unaffected father and grandmother. Unlike wild-type protein, this mutant required cotransfected E12 to localize to the nucleus, indicating that the NLS, including amino acid 39, is essential for nuclear localization; inhibition of E2A-dependent transcription of CDKN1A occurred normally. This analysis further dissects the structure-function relationships of TWIST and corroborates with phenotypic observations of disease expressivity.

Amino Acid Motifs↗

Mandibular prognathism in Japanese families ascertained through orthognathically treated patients.

INTRODUCTION: Patients with severe mandibular prognathism frequently require orthognathic surgery to correct skeletal disharmony. Genetic and environmental factors are suggested in the etiology of mandibular prognathism, but the precise contribution of these factors is unknown. METHODS: To clarify the impact of genetic factors on mandibular prognathism, we gave a questionnaire to 105 subjects with severe skeletal Class III mandibular prognathism who planned to undergo or had undergone orthognathic surgery. The questionnaire assessed mandibular prognathism in 3 generations of each subject's family. All answers were confirmed in a careful interview that included differentiation of "maxillary deficiency" and "mandibular excess." This is the first 3-generation family study of mandibular prognathism in orthognathically treated patients. RESULTS: The average ANB, SNA, and SNB angles in the probands were -3.7 degrees , 80.9 degrees , and 84.6 degrees, respectively. A total of 1480 family members were examined, and 11.2% had mandibular prognathism. Men were slightly more affected than women; 68.6% of families had at least 1 member other than the proband with mandibular prognathism. The affected ratio of first-degree relatives was more than twice that of second-degree relatives (17.5% and 7.6%, respectively). There was no difference in the occurrence between fathers and mothers of probands, and siblings showed a high affected ratio of 25.0%. Falconer's heritability was calculated as 84.3% in first-degree relatives. CONCLUSIONS: A high occurrence of mandibular prognathism was seen in families of orthognathically treated skeletal Class III patients, suggesting a profound genetic influence.

Adult↗

Dynamic analysis of articulatory movement using magnetic resonance imaging movies: methods and implications in cleft lip and palate.

OBJECTIVES: To visualize articulatory movement using a magnetic resonance imaging (MRI) movie of a subject with cleft lip and palate (clp) and to demonstrate the usefulness of this method for studying oropharyngeal function. MATERIAL AND METHODS: Dynamic changes in oropharyngeal structures were assessed with an MRI movie of a man with cleft lip and palate and in a normal adult male volunteer during the articulation of /pa/, /ta/, and /ka/. RESULTS AND CONCLUSIONS: Different movement patterns were observed during articulation in the subject with CLP compared with the normal volunteer. Posterosuperior movement of the tongue and the anterior movement of the posterior pharyngeal wall were clearly visualized in the subject with CLP. Thus, MRI movies appear to be a promising tool for evaluating speech function in patients with CLP because of their noninvasive and nonradiation nature.

Adult↗

Attitude of the canine in secondary bone-grafted and nongrafted patients with cleft lip and palate.

OBJECTIVE: To investigate the eruption pattern of the cleft-side canine regarding its pre-eruption position relative to the cleft in bone-grafted (BG) and nongrafted (NonBG) patients with cleft lip and palate. METHODS: Fifty-three patients with cleft lip and palate (21 BG, 32 NonBG) were examined by panoramic radiography and posteroanterior cephalography taken before and after canine eruption. Subjects were categorized into BG, NonBG, and control groups. Canines at the pre-eruption stage were categorized as close to (group 1) or distant from (group 2) the cleft area. The canine angle and its change between the two stages were evaluated. RESULTS: No significant differences were noted between the initial canine angle of the BG and NonBG groups. Although canines in the BG group erupted without a significant change in angle, the canine angle increased significantly (p < .0001) in the NonBG and control groups. In group 1, a greater change in canine angle was noted in the NonBG (p < .05) and control (p < .01) groups than in the BG group. In group 2, no significant difference was noted among the three groups. CONCLUSIONS: In BG patients, a canine located near the cleft appears to erupt at the same angle as it had before grafting. However, in NonBG patients, it erupts more vertically, guided by cortical bone. For canines distant from the cleft area, there is no significant difference in the change in angulation between NonBG and BG patients.

Alveolar Process↗

Three cases of oculo-facio-cardio-dental (OFCD) syndrome.

OBJECTIVE: Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition with ocular, facial, cardiac, and dental disorders. The purpose of this report is to describe three Japanese female patients by using facial measurements, tooth measurements, and cephalometric analysis. DESIGN: Facial measurements, tooth measurements, and the results of cephalometric analyses were compared with Japanese standards using panoramic roentgenograms, dental casts, and lateral cephalograms. RESULTS: A long face and thick upper and lower lips were noted for all cases from facial measurements, and a long crown length and long dental root were noted for all cases from tooth measurements. Relative mandibular protrusion and a large anterior lower facial height, accompanied by a steep mandible and large gonial angle, were seen from the cephalometric analyses. CONCLUSIONS: The results of a long face and long dental root were in accordance with previous reports. In addition, thick upper and lower lips, relative mandibular protrusion, large anterior lower facial height accompanied by a steep mandible, and a large gonial angle may be characterized as specific features of this syndrome.

Adolescent↗

Craniofacial morphology of skeletal class III patients before treatment and growth-related changes during treatment with a maxillary protraction appliance: a comparison of orthodontic and surgical cases.

AIMS: To examine differences in the craniofacial morphology of skeletal Class III patients before treatment and growth-related changes during treatment with a maxillary protraction appliance (MPA) between patients who were treated only orthodontically (orthodontic group) and those who eventually received orthognathic surgery (surgical group). METHODS: The orthodontic and surgical groups consisted of 6 boys and 9 girls and 4 boys and 6 girls, respectively. Lateral cephalograms taken at the first visit and at the end of treatment with the MPA were measured. The Mann-Whitney U test and Wilcoxon signed-rank test were used. RESULTS: Before treatment, the Wits appraisal was significantly smaller and the gonial angle was significantly larger in the surgical group. During treatment, both the SNA and ANB angles were significantly increased in the orthodontic group, whereas only the SNB angle was significantly increased in the surgical group. Moreover, significant lingual inclination of the mandibular incisors was found in the orthodontic group. CONCLUSION: The Wits appraisal and gonial angle were useful for distinguishing between the two groups at the first visit. Facilitation of forward maxillary growth, modification of the direction of mandibular growth, and lingual tipping of the mandibular incisors may be important ways to avoid orthognathic surgery.

Cephalometry↗

Evaluation of stomatognathic function in orthodontic treatment.

AIM: To evaluate changes in stomatognathic function related to orthodontic treatment in 4 patients with various types of dysfunction of the stomatognathic system present prior to orthodontic treatment. METHODS: Four patients who visited the Orthodontic Clinic at Tokyo Medical and Dental University Hospital and whose active orthodontic treatment was complete were analyzed both morphologically and functionally. To analyze stomatognathic function, electromyographic activity of the masticatory muscles and mandibular movements was recorded. RESULTS: In all 4 patients, changes in stomatognathic function were observed following improvements in craniofacial structural and interocclusal relationships. Many of these changes consisted of elimination of functional disharmony, although the cause-effect relationship between these functional changes and orthodontic treatment is unclear. CONCLUSION: Functional analysis during orthodontic treatment can provide useful information concerning the relationship between craniofacial structures and stomatognathic function.

Adult↗

Modulation of voluntary swallowing by visual inputs in humans.

The purpose of this study was to test the hypothesis that a stimulus which strengthens a central input to a swallowing-related cortical area, given before voluntary swallowing, could facilitate subsequent swallowing movements. The subjects consisted of seven healthy volunteers. We used visual images to strengthen central input. The subjects voluntarily performed either dry swallowing or water swallowing after presentation of the visual images. Under the water-swallowing condition, the latency was significantly shorter and the maximum amplitude of the suprahyoid electromyographic (EMG) activity was significantly smaller in subjects who received drink-related visual input. However, there were no similar differences under the dry-swallowing condition. In addition, there were no significant differences in the mean EMG amplitude or the duration of EMG activity between subjects who did and did not receive drink-related visual input under either swallowing condition. We concluded that drink-related visual inputs prior to voluntary swallowing facilitate the initiation of swallowing and enhance swallowing-related muscle activity in the presence of peripheral inputs.

Adult↗