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1.
Folia Phoniatr Logop ; 60(6): 318-22, 2008.
Article in English | MEDLINE | ID: mdl-19011304

ABSTRACT

The literature suggests that, within several months of birth, infants develop the ability to distinguish between different speech sounds. However, the time frame for discrimination of a specific phonological system remains unclear. In order to clarify this, the discrimination responses of 211 preschool children were examined. The test battery consisted of 16 pairs of Japanese words, of which each pair contained distinctive phonemes in the initial syllables only. Test stimuli were presented in 2 ways: one as a whole test word and the other as only the initial syllable, which contained the target phoneme. When the test stimuli were whole words, correct discrimination exceeded 60% for test pairs in age groups older than 2:06-2:11 chronological age (years:months). However, when initial syllables were used, correct discrimination only exceeded 60% in age groups older than 3:06-3:11. Phonemic distinction within syllables seems to be established during early preschool age in Japanese children.


Subject(s)
Language , Phonetics , Speech Intelligibility , Child, Preschool , Humans , Japan , Speech Perception
2.
Dermatol Surg ; 34(12): 1683-8, 2008 Dec.
Article in English | MEDLINE | ID: mdl-19018825

ABSTRACT

BACKGROUND: A follicular unit extraction (FUE) method has been developed as one type of follicular unit transplantation (FUT) surgery that is a widely accepted hair restoration technique. Although FUE is considered to be more time consuming, depending on the operator's skill, and there are restrictions on patient candidacy, FUE has many advantages, including a small donor wound, less pain, and a slender graft without extra surrounding tissue. OBJECTIVE: To propose a novel powered FUE (P-FUE) technique. MATERIALS AND METHODS: To compare harvesting time and graft transection rate, FUE surgery was performed by manual FUE and P-FUE on male patients with alopecia. RESULTS: The P-FUE method had a shorter harvesting time (6.0 minutes for 100 grafts; 14.2 minutes for manual FUE) and lower graft transection rate (5.4% vs 17.3% with manual FUE). For 40 P-FUE cases, mean harvesting time for 100 grafts was 8.9+/-1.3 minutes. In 10 validated cases, the transection rate was 5.5%. Although there were limitations on patient selection with manual FUE, there were no restrictions on patient candidacy with the P-FUE method. CONCLUSION: The P-FUE method is a novel FUE procedure with many advantages over the conventional FUE technique.


Subject(s)
Hair Follicle/surgery , Hair/transplantation , Tissue and Organ Harvesting/instrumentation , Equipment Design , Humans
3.
Int J Urol ; 14(6): 510-4, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17593095

ABSTRACT

AIM: We prospectively investigated health-related quality of life (HR-QOL), including sexual function and sexual bother, in patients who underwent nerve grafting during a radical prostatectomy in comparison with those who underwent a non-nerve-sparing radical prostatectomy. METHODS: Between August 2001 and May 2004, radical prostatectomies were performed on 69 patients with clinical T1-T2N0/M0 prostate cancer. Of these, 66 patients (22: nerve-grafting patients, 44: non-nerve-sparing and non-nerve-grafting patients) were enroled into this study. The observation periods ranged from 12-46 months (median: 29 months). The general HR-QOL was measured with the SF-36 General Health Survey and disease-specific HR-QOL was measured with the University of California Los Angeles-Prostate Cancer Index. RESULTS: Penile tumescence was observed in 11 out of 15 (73.3%) prostate-specific antigen failure-free patients who underwent unilateral nerve grafting with contra-lateral nerve-sparing or bilateral nerve grafting. Vaginal penetration was observed in six out of 15 (40.0%) patients. The time for partial erection and for intercourse, respectively, ranged from 3-21 months (median = 6 months) and 6-36 months (median = 13.5 months). There were no significant differences in general HR-QOL changes over time between the nerve-grafting patients and the patients without any nerve-preserving procedures. The sexual function score was significantly better in the nerve-grafting (bilateral nerve graft or unilateral nerve graft with contra-lateral nerve-sparing) patients than in the non-nerve-sparing/non-nerve-grafting patients. The sexual bother score, however, was more serious for the patients who underwent nerve-grafting surgery than for the non-nerve-sparing/non-nerve-grafting patients. CONCLUSION: Sexual bother is serious for patients who attempt to maintain sexual function after special surgical procedures, such as nerve-grafting surgery. We should be aware that careful counseling is needed to avoid impatient and excessive hope for the recovery of sexual function.


Subject(s)
Erectile Dysfunction/prevention & control , Postoperative Complications/prevention & control , Prostatectomy/methods , Prostatic Neoplasms/surgery , Sural Nerve/transplantation , Aged , Coitus , Counseling , Defecation , Erectile Dysfunction/psychology , Follow-Up Studies , Humans , Longitudinal Studies , Male , Middle Aged , Patient Satisfaction , Penile Erection , Penis/innervation , Penis/physiology , Postoperative Complications/psychology , Prospective Studies , Prostatectomy/adverse effects , Prostatectomy/psychology , Prostatic Neoplasms/psychology , Quality of Life , Time Factors , Treatment Outcome , Urination
4.
Pathol Int ; 57(6): 337-42, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17539964

ABSTRACT

Keloids and hypertrophic scars have several common features. Both are reddish, firm, slightly protruding lesions that consist of proliferative fibroblastic cells and collagenous tissues. The aim of the present study was to evaluate the contribution of factor XIIIa (FXIIIa)-positive dermal dendritic cells to formation of keloids and hypertrophic scars. The numbers of FXIIIa-positive cells were counted in the keloid, hypertrophic scar and mature scar, each of which was divided into fibrocollagenous area and superficial dermal area overlying the nodular lesion. The features of the FXIIIa-positive cells were examined using immunohistochemical and immunoelectron microscopic techniques. More FXIIIa-positive cells were present in the overlying dermal area than in the fibrocollagenous area, commonly in three types of dermal lesion. The number of FXIIIa-positive dendritic cells was significantly greater in the overlying dermal area of keloids than in the corresponding area of hypertrophic or mature scar. Immunoelectron microscopic examination showed that the immunoreactivity for FXIIIa was seen mainly at the periphery of the cytoplasm of dermal dendritic cells. These results suggest that FXIIIa-positive dendritic cells in the overlying dermal area play active roles in formation of keloids and may contribute to dermal-epidermal interactions in keloids.


Subject(s)
Cicatrix, Hypertrophic/metabolism , Factor XIIIa/metabolism , Keloid/metabolism , Langerhans Cells/metabolism , Biomarkers/metabolism , Cicatrix, Hypertrophic/pathology , Cicatrix, Hypertrophic/surgery , Cytoplasm/metabolism , Cytoplasm/ultrastructure , Factor XIIIa/ultrastructure , Humans , Immunoenzyme Techniques , Keloid/pathology , Keloid/surgery , Langerhans Cells/pathology , Microscopy, Immunoelectron
5.
Otolaryngol Head Neck Surg ; 136(1): 33-7, 2007 Jan.
Article in English | MEDLINE | ID: mdl-17210330

ABSTRACT

OBJECTIVE: To investigate the incidence of unilateral hypodynamic palate (UHP) and velopharyngeal insufficiency (VPI) in hemifacial microsomia (HFM), and to determine the dysmorphic manifestations having significant associations with UHP/VPI in HFM. STUDY DESIGN: This was a nonrandomized study of 48 patients with unilateral HFM without cleft palate. The correlation between each anomaly and UHP/VPI was analyzed statistically. In addition, we observed 4 HFM patients with cleft palate to examine the influence on cleft palate speech. RESULTS: The incidence of UHP in HFM was 50.0% and that of VPI was 14.6%. All the VPI patients had UHP. Severe micrognathia and soft tissue deficiency, macrostomia, and mental retardation were significant risk factors for developing VPI in HFM. Moreover, UHP exacerbated speech in HFM with cleft lip and palate. CONCLUSIONS: Significant correlations were detected between VPI and HFM. This finding should be helpful in the overall management of HFM.


Subject(s)
Facial Asymmetry/complications , Velopharyngeal Insufficiency/etiology , Adult , Aged , Child , Child, Preschool , Cleft Palate/complications , Cleft Palate/physiopathology , Facial Asymmetry/classification , Facial Asymmetry/physiopathology , Humans , Middle Aged , Prospective Studies , Velopharyngeal Insufficiency/classification , Velopharyngeal Insufficiency/physiopathology
6.
Article in English | MEDLINE | ID: mdl-16912002

ABSTRACT

We report a Japanese family with Greig cephalopolysyndactyly syndrome (GCPS), in which the grandmother, mother, and daughter were affected. They each had the same characteristics including bilateral seven toes, hypertelorism, and esotropia. Bilateral seven toes and esotropia had followed over three generations and have not previously been reported in this syndrome. The present case with bilateral seven toes and esotropia may be a new type.


Subject(s)
Craniofacial Abnormalities/genetics , Esotropia/genetics , Polydactyly/genetics , Adult , Asian People/genetics , Female , Humans , Infant , Pedigree
7.
Article in English | MEDLINE | ID: mdl-16537259

ABSTRACT

We studied the long-term outcome of injection of triamcinolone acetonide into keloid scars in Asian patients. Between 1985 and 2003, we treated 109 keloid scars in 94 patients by injecting 1 to 10?mg of triamcinolone acetonide depending on the size of the lesion at four week intervals. There was little morbidity. Thirty-one patients gave up treatment within 10 injections because of pain and lack of immediate improvement. Improvement in subjective symptoms was seen in 52 of the remaining 63 patients (82%). In objective symptoms, fair or better results were seen in 40 of 63 (63%), and good or better results in 25 of 63 (39%). The treatment method required 20-30 injections over three to five years. Although we did not achieve as good results as other authors, we think it was safer because we used a smaller dose of a steroid.


Subject(s)
Cicatrix/drug therapy , Glucocorticoids/therapeutic use , Keloid/drug therapy , Triamcinolone Acetonide/therapeutic use , Adolescent , Adult , Aged , Asian People , Child , Child, Preschool , Cicatrix/etiology , Female , Humans , Infant , Infant, Newborn , Injections, Intralesional/statistics & numerical data , Keloid/complications , Male , Middle Aged , Pain/drug therapy , Pain/etiology , Pruritus/drug therapy , Pruritus/etiology , Treatment Outcome
8.
Microsurgery ; 26(3): 171-6, 2006.
Article in English | MEDLINE | ID: mdl-16482590

ABSTRACT

Between 1986-2004, 13 patients (11 males and 2 females; mean age, 63.9 years) underwent microsurgical reconstruction after total maxillectomy in our hospital. Reconstructions using a rectus abdominis musculocutaneous flap were primarily carried out in our hospital by emphasizing soft-tissue filling. No postoperative complication related to a vascular anastomosis (such as thrombosis) was noted (success rate, 100%). In 3 cases, fistula formation was observed postoperatively (23.0%). In one case reconstructed with a scapular flap with a vascularized scapula, atelectasis followed by serious pneumonia was observed, and the patient temporarily fell into a life-threatening condition. Five patients died after 1-2 years due to recurrence of maxillary sinus carcinoma, and 2 died after 3-4 years due to another tumor (lung and esophageal). The disease-specific 5-year survival rate of all 40 patients with maxillary sinus carcinoma treated in our hospital by the Kaplan-Meier method was 54.6%, and the overall survival rate was 45.8%. As the prognosis of maxillary sinus carcinoma is poor, we consider that priority should be given to filling of defects with soft tissues, and we also consider that this study is significant to reevaluate strategies for maxillary reconstruction.


Subject(s)
Maxilla/surgery , Maxillary Sinus Neoplasms/surgery , Surgical Flaps , Aged , Female , Humans , Male , Maxillary Sinus Neoplasms/mortality , Middle Aged , Postoperative Complications/epidemiology , Prognosis , Plastic Surgery Procedures , Retrospective Studies
9.
Article in English | MEDLINE | ID: mdl-16320409

ABSTRACT

Although basic fibroblast growth factor (bFGF) is used for the treatment of various intractable ulcers, there have been no reports of using it for gangrene of the fingertips caused by collagen diseases. We successfully treated gangrene as a result of malignant rheumatoid arthritis with aluminum foil combined with bFGF.


Subject(s)
Arthritis, Rheumatoid/complications , Fibroblast Growth Factor 2/administration & dosage , Fingers/pathology , Wounds and Injuries/therapy , Administration, Topical , Debridement , Fingers/blood supply , Gangrene/etiology , Gangrene/surgery , Humans , Male , Middle Aged , Nails, Ingrown/complications , Occlusive Dressings , Vascular Diseases/etiology , Wound Healing , Wounds and Injuries/etiology
10.
J Reconstr Microsurg ; 21(8): 525-9; discussion 530-2, 2005 Nov.
Article in English | MEDLINE | ID: mdl-16292727

ABSTRACT

The authors performed cavernous nerve reconstruction by nerve grafting in 22 patients (unilateral-16, bilateral-6) between August 2001 and June 2004. Harvesting of the sural nerve was unexpectedly more difficult than nerve grafting in the extremities or the head and neck, because a knee and lumbar bending position was impossible due to the pelvic surgical field. Suture of the grafted nerve on the distal side required great effort, because there was only sufficient space for one hand at the maximum in a deep region of the pelvic cavity, and the nerve ends easily become invisible by inflow of even a small amount of urine or blood. The mean time of the nerve harvesting and grafting was 1 hr 50 min for unilateral grafting and 2 hr 40 min for bilateral grafting. Recovery of erectile function was observed in about half the patients who had undergone surgery nearly 1 year before. Since harvesting of the sural nerve and nerve grafting were more difficult than expected, modification and improvement of many surgical elements, such as improvement of surgical devices and application of endoscopic techniques, are necessary.


Subject(s)
Prostatectomy/methods , Sural Nerve/transplantation , Tissue and Organ Harvesting/methods , Aged , Erectile Dysfunction/etiology , Erectile Dysfunction/prevention & control , Humans , Male , Middle Aged , Postoperative Complications/prevention & control , Prostatectomy/adverse effects , Prostatic Neoplasms/surgery , Recovery of Function , Treatment Outcome
11.
Ann Plast Surg ; 55(4): 427-9, 2005 Oct.
Article in English | MEDLINE | ID: mdl-16186713

ABSTRACT

For vulvar reconstruction following radical vulvectomy in a 71-year-old woman with a large vulvar cancer, we applied the deep inferior epigastric perforator flap (DIEP flap), a typical perforator flap, which could be performed by utilizing an abdominal incision wound without producing another surgical scar and had less donor site morbidity because of a minimal sacrifice of muscles. The surgical procedures were less invasive and simple, and morphologically and functionally satisfactory results were obtained: no recurrence of cancer, a well-preserved vulvar morphology with less donor site scarring, and no functional disturbance such as dysuria and abdominal hernia. We consider that the DIEP flap is the first choice for vulvar reconstruction following radical vulvectomy. Even in radical vulvectomy without an abdominal incision wound, the DIEP flap with an anatomically reliable vascular pedicle can be an effective option.


Subject(s)
Carcinoma, Squamous Cell/surgery , Plastic Surgery Procedures/methods , Rectus Abdominis/transplantation , Surgical Flaps , Vulvar Neoplasms/surgery , Abdomen/surgery , Aged , Female , Humans , Neoplasm Staging
12.
J Biomater Sci Polym Ed ; 16(7): 893-907, 2005.
Article in English | MEDLINE | ID: mdl-16128295

ABSTRACT

Basic fibroblast growth factor (bFGF) is well known to promote the proliferation of almost all cells associated with wound healing. However, as the activation duration of bFGF is very short in vivo, we incorporated bFGF into an acidic gelatin hydrogel and studied the sustained release of bFGF in vivo. In addition, we investigated the effects of the acidic gelatin sheet containing bFGF on wound healing. To distinguish wound contraction from neoepithelialization, we measured both the wound area and neoepithelium length. Other histological parameters such as thickness of granulation tissue and number of capillaries were also determined as indices of wound healing. Fibrous tissue was assessed using an Elastica van Gieson and Azan stain. A skin defect (1.5 x 1.5 cm) of full thickness was created on the back of each test mouse and the wound was covered with an acidic gelatin hydrogel, referred to as a gelatin sheet in this study (2 x 2 cm), with bFGF (100 microg/site) (A) or without bFGF (B). 1, 2, 3, 5, 7 and 14 days after covering, mice were killed and an enzyme-linked immunosorbent assay (ELISA) was performed to estimate the concentration of bFGF in the plasma. In another experiment, each wound was covered with (A), (B) or a hydrogel dressing (control group, C) and the wound area was measured 1 or 2 weeks postoperatively with a computer planimeter. The histological parameters, as mentioned above, were assessed using a light microscope. Sustained release of bFGF from the gelatin sheet was observed and the gelatin sheet containing bFGF promoted neoepithelialization, granulation, neovascularization and wound closure. This gelatin sheet containing bFGF was concluded to be effective for wound healing and promising for clinical use.


Subject(s)
Fibroblast Growth Factor 2/administration & dosage , Gelatin/administration & dosage , Wound Healing/drug effects , Animals , Antigens, CD34/physiology , Delayed-Action Preparations , Fibroblast Growth Factor 2/blood , Fibroblast Growth Factor 2/chemistry , Fibroblast Growth Factor 2/pharmacokinetics , Gelatin/chemistry , Gelatin/pharmacokinetics , Granulation Tissue/drug effects , Granulation Tissue/physiology , Histocytochemistry , Hydrogel, Polyethylene Glycol Dimethacrylate/administration & dosage , Hydrogel, Polyethylene Glycol Dimethacrylate/chemistry , Hydrogel, Polyethylene Glycol Dimethacrylate/pharmacokinetics , Male , Mice , Mice, Inbred C57BL , Mice, Inbred ICR , Neovascularization, Physiologic/drug effects , Neovascularization, Physiologic/physiology , Wound Healing/physiology
14.
Acta Med Okayama ; 59(4): 121-7, 2005 Aug.
Article in English | MEDLINE | ID: mdl-16155637

ABSTRACT

Macrophages and microglia are implicated in spinal cord injury, but their precise role is not clear. In the present study, activation of these cells was examined in a spinal cord injury model using 2 different antibodies against ED1 clone and ionized calcium binding adaptor molecule 1 (Iba1). Activation was observed at 1, 4, 8, and 12 weeks after contusion injury and was compared with sham operated controls. Our results indicate that activation could be observed in both the dorsal funiculus and the ventral white matter area in the spinal cord at 5 mm rostral to the epicenter of injury. For both cells, there was a gradual increase in activation from 1-4 weeks, followed by down-regulation for up to 12 weeks. As a result, we could stain macrophages by ED1 and microglia by Iba1. We concluded that macrophages may play a role in the phagocytosis of denatured dendrites after spinal cord injury, while microglia may have some cooperative functions, as they were found scattered near the macrophages.


Subject(s)
Macrophages/metabolism , Microglia/metabolism , Spinal Cord Injuries/pathology , Spinal Cord , Animals , Calcium-Binding Proteins/metabolism , Immunohistochemistry , Macrophages/cytology , Male , Microfilament Proteins , Microglia/cytology , Rats , Rats, Sprague-Dawley , Spinal Cord/anatomy & histology , Spinal Cord/metabolism , Spinal Cord/pathology , Spinal Cord Injuries/metabolism
15.
J Hand Surg Am ; 30(3): 562-5, 2005 May.
Article in English | MEDLINE | ID: mdl-15925168

ABSTRACT

PURPOSE: The pocket principle suggested by Brent in 1979 is an alternative method for use when microsurgical replantation is not feasible. The application and the amputation level for which the method is available, however, have not been well examined. METHODS: Between 1999 and 2003 we treated 6 patients (7 fingers) by nonmicrosurgical replantation using a subcutaneous pocket (the Brent technique). All patients had sustained complete fingertip amputations across or proximal to the lunula in digits other than the thumb. In every case the amputation was a crush or avulsion-type injury and microsurgical replantation was not feasible; however, cosmetic symmetry was desired strongly by the patient. RESULTS: Of the 7 fingers only one survived completely but became atrophic after 4 months. One finger developed necrosis involving less than half of the replant but a hooked nail deformity developed. Two fingers developed partial necrosis involving more than half of the replant but both fingers were missing the fingernail and the cosmetic results were not acceptable. Three fingers developed total necrosis. In addition a slight flexion contracture not improved with therapy in the digits was noted in 4 patients. CONCLUSIONS: The Brent technique should be performed scrupulously for fingertip amputation across or proximal to the lunula because of the poor survival rate and the possibility of contracture in the digits or other proximal joints.


Subject(s)
Amputation, Traumatic/surgery , Finger Injuries/surgery , Replantation/adverse effects , Replantation/methods , Adult , Contracture/etiology , Esthetics , Female , Fingers/pathology , Graft Rejection , Humans , Male , Middle Aged , Necrosis/etiology
16.
Ann Plast Surg ; 54(6): 604-9, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15900144

ABSTRACT

The PNB classification, which was advocated by Evans and Bernadis, separates the injuries into their effects on 3 components of the fingertip: pulp, nail, and bone. Because each component is subdivided into 7 or 8 items, this can describe fingertip injuries more precisely. Between 1997 and 2003, we treated 381 fingertip injuries (279 males, 102 females; average age, 41.2 years) in our facilities. A 3-digit number was provided for each of the 381 cases in accordance with the PNB classification. We extracted patients in whom amputated tissues did not exist, and predicted the boundary between conservative treatment and surgical treatment by individually comparing the curative results of the same type of injuries. In conclusion, PNB 355-366 and PNB 455-466 were most suitable for surgical treatment, and the boundaries between surgical treatment and conservative treatment were PNB 386 and 666 and 700. The results, which are the criteria for surgical treatment, are summarized as follows; 1) More than two thirds of the distal phalanx remains. 2)The nail bed defect ranges from one third to half. If the defect is more or less than the criteria, the surgical treatment is less significant. Recognition of the boundary and prevention from unnecessary surgical treatment leads to minimum invasive surgery for fingertip injuries.


Subject(s)
Finger Injuries/classification , Finger Injuries/surgery , Patient Selection , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Finger Injuries/therapy , Humans , Infant , Infant, Newborn , Male , Middle Aged , Plastic Surgery Procedures
17.
Ann Plast Surg ; 54(6): 670-2, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15900159

ABSTRACT

To date, very few studies have reported the use of perforator flaps in newborn infants with an immature vascular system. Therefore, it is not clear whether perforator flaps can be used in newborns, as in adults. In this study, we applied the perforator flap procedure to a newborn infant, who had a large skin defect due to lumbosacral meningocele. We used the rhomboid perforator flap, which was a combination of using a rhomboid flap reported by Ohtsuka et al and preserving paraspinal perforator vessels according to Thomas. Although perforator vessels were so thin as to necessitate careful dissection and flap design, a good result was obtained by this procedure. We consider that the rhomboid perforator flap is a simple and reliable procedure for the treatment of lumbosacral meningocele.


Subject(s)
Meningomyelocele/surgery , Meningomyelocele/therapy , Plastic Surgery Procedures/methods , Surgical Flaps/blood supply , Humans , Infant, Newborn , Male
19.
Congenit Anom (Kyoto) ; 45(2): 65-6, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15904435

ABSTRACT

Rubinstein-Taybi syndrome (RTS), also known as 'broad thumbs syndrome' or 'broad thumb-hallux syndrome', is a malformation syndrome characterized by the triad of broad thumbs or first toes, a peculiar facial expression called 'comical face' and mental retardation. Although various malformations are combined with the triad, polydactyly is rare. We treated a male patient with RTS complicated by postaxial polydactyly of the foot. His clinical course was different from typical patients with polydactyly, especially in the aspect of walking development. Osteoplasty-combined surgery, which was ideal for anatomical reconstruction, was performed on the patient at 2 years and 11 months of age. A 4-year follow-up period was required until there was an improvement of dysbasia.


Subject(s)
Polydactyly/therapy , Rubinstein-Taybi Syndrome/therapy , Toes/abnormalities , Child, Preschool , Follow-Up Studies , Humans , Male , Rubinstein-Taybi Syndrome/surgery , Toes/surgery , Walking
20.
Am J Med Genet A ; 134(4): 363-7, 2005 May 01.
Article in English | MEDLINE | ID: mdl-15759264

ABSTRACT

Treacher Collins Syndrome (TCS) (OMIM 154500) is a congenital, craniofacial disorder inherited as an autosomal dominant trait. The responsible gene for TCS, TCOF1, was mapped to 5q32-33.1 and identified in 1996. Since then, TCOF1 mutations in patients with TCS have been reported from Europe, North and South America, however, no TCS cases from an Asian country have been molecularly characterized. Here we report mutational analysis for 11 Japanese patients with TCS for the first time, and have identified TCOF1 mutations in 9 of them. The mutations detected were various, but most likely all the mutations are predicted to result in a truncated gene product, known as treacle. One mutation frequently reported was included in our cases, but no missense mutations were detected. These findings are similar to those for the previous studies for TCS in other races. We have speculated about the molecular mechanisms of the mutations in most cases. Collectively, we have defined some of the characteristic molecular features commonly observed in TCS patients, irrespective of racial difference.


Subject(s)
Mandibulofacial Dysostosis/genetics , Mutation , Nuclear Proteins/genetics , Phosphoproteins/genetics , Base Sequence , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Female , Humans , Japan , Male , Mandibulofacial Dysostosis/pathology , Models, Genetic , Polymorphism, Single-Stranded Conformational , Sequence Deletion
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