Biomedical subjects

K Shimozato

Publications and source records attributed to K Shimozato.

13 recordsLinked to original sources

PubMed2006

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

AIM: To search for patched homologue 1 (PTCH1) mutations in four families with basal cell nevus syndrome (BCNS). METHODS: Mutation analysis of PTCH1 in unrelated Japanese families affected with BCNS was carried out by direct sequencing. RESULTS: Six novel PTCH1 mutations, 833G-->A in exon 6, 1415C-->A and 1451G-->T in exon 10, 2798delC in exon 17, 2918-2925dupAGTTCCCT in exon 18 and 3956C-->A in exon 23, were identified. CONCLUSIONS: Among the six PTCH1 mutations, two frameshift mutations (2798delC and 2918-2925dupAGTTCCCT) and one nonsense mutation (833G-->A) are predicted to lead to premature termination of PTCH1 protein translation. Three simultaneous mutations, 1415C-->A (A472D) and 1451G-->T (G484V) in exon 10, and 3956G-->A (R1319H) in exon 23, were found on one allele in only affected members in one family and none of them were found among 90 unrelated healthy Japanese. The three mutations on one chromosome may have resulted from errors in the recombinational repair process and this is the first report on the PTCH1 mutations due to such a mechanism.

Adolescent↗

PubMed2006

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

Van der Woude syndrome (VWS) is an autosomal-dominant oral facial disorder. To find a gene mutation in a Japanese family using fingernail DNA samples, we performed this study. We hypothesized that a gene mutation in IRF6 might be involved in VWS, and that fingernail DNA samples may be valuable for detecting such mutations. Linkage and haplotype analyses of the family mapped the disease locus to the 1q32-q41 region. Mutation analysis with an improved extraction method for fingernail DNA detected a novel missense mutation (1046A>T, E349V) in exon 7 of IRF6 in all the affected members of the family. Since the E349V change may disturb the hydrophobic core and affect regulatory activity of IRF6, it is most likely that the mutation is causative for VWS in this family. Fingernail DNA is thus useful for linkage and mutation analyses, since the fingernail can be easily obtained non-invasively, sent through the mail, and stored for a long period. We emphasize here the usefulness of fingernail DNA for the genetic analysis of a disease.

Adenine↗

PubMed2005

A downward spread in acute parotitis.

Acute parotitis occasionally spreads rapidly down the neck with severe symptoms of swelling and pain. However, the inflammatory course of parotitis with extraglandular spread has seldom been described. On CT images, we have noticed a unique area just below the parotid gland that is surrounded by the platysma muscle and the superficial layer of the deep cervical fascia (DCF). In this case report, we describe the CT imaging features of acute parotitis, focusing on this area.

Adult↗

PubMed2004

Cyclooxygenase-2 is a possible target of treatment approach in conjunction with photodynamic therapy for various disorders in skin and oral cavity.

BACKGROUND: Anti-cancer effects of cyclooxygenase (COX)-2 inhibitors have been reported, but not fully investigated in skin and oral diseases. 5-aminolaevulinic acid (ALA)-based photodynamic therapy (PDT) for treating those patients with skin and oral lesions is a highly sophisticated procedure, but the incidence of disease recurrence after treatment is rather significant. OBJECTIVE: To confirm that COX-2 could be a molecular target in adjunctive therapy to ALA-based PDT, we investigated (i) COX-2 expression in various skin and oral diseases, and (ii) the inhibitory effects on cellular growth of COX-2 selective inhibitor (nimesulide), ALA-based PDT and their combination on human oral squamous cell carcinoma (SCC) cell lines. METHODS: A total of 129 biopsy samples from the skin and oral mucosal lesions were tested immunohistochemically for COX-2 expression. Then the in vitro effects of nimesulide, ALA-based PDT, and their combination were determined on two SCC cell lines, HSC-2 and HSC-4. Three different methods (MTT assay, double-staining for annexin V and propidium iodide, caspase-3/CPP32 fluorometric protease assay) were applied for evaluation of their inhibitory effects on these two cell lines. RESULTS: Among the skin diseases, a considerable number of COX-2 high expressers were found in actinic keratosis (15 of 25, 60%), Bowen's disease (13 of 17, 76%) and extramammary Paget's disease (15 of 15, 100%). In contrast, only one of 33 (3%) basal cell carcinoma tumours was a COX-2 high expresser. Among the oral mucosal biopsies, the proportion of COX-2 high expressers increased gradually from hyperplasia (one of six, 17%) through mild dysplasia (five of eight, 63%) and moderate dysplasia (20 of 23, 87%) to severe dysplasia (two of two, 100%). Nimesulide had an inhibitory effect in vitro on HSC-2 (proven to be a COX-2 high expresser), but not on HSC-4 (a COX-2 non-expresser). While ALA-based PDT showed an inhibitory effect on both HSC-2 and HSC-4, most importantly the combination of nimesulide and ALA-based PDT demonstrated a significant synergistic effect on the cellular growth inhibition of only HSC-2, but not of HSC-4. CONCLUSIONS: Our study strongly suggests that COX-2 can be one of the molecular targets in treating various skin and oral diseases. The results from our in vitro experiments also prompt us to develop a new protocol with a combination of COX-2 selective inhibitor and ALA-based PDT for more effective treatment of those diseases.

Aminolevulinic Acid↗

PubMed1998

[Is a maxillary prosthesis difficult for patients with trismus?].

Of patients with a postoperative maxillary defect, around 30% are though to have trismus to some extent. In these patients, some difficulty in fabricating a maxillary prosthesis is expected. In this study, 54 patients with trismus were compared with a control group to find some proof of difficulty in making a maxillary prosthetics. Fifty-four of trismus less than 20 mm of a mandibular stroke were experienced out of 185 patients with maxillary prosthetics between October 1984 and October 1992. The trismus was divided into 4 groups of less than 5 mm (1 case), 5 mm-10 mm (10 cases), 11 mm-15 mm (19 cases), and 16 mm-20 mm (24 cases). These case were analyzed by in taking an impression failure, average weight of the prosthesis, time needed to complete the prosthesis and some special form of prosthesis. No apparent differences among the 4 groups or with the control group were found. The cause of the difficulty in making a prosthesis for such patients with trismus are suggested not to be simply due to the range of mouth opening but also to the complexed space formed by the dental defect, alveolar bone defect, spreadability of the lip and the cheek, the mandibular stroke and the so-called scar bundle of the cheek next to the defect.

Adult↗

PubMed1997

[The chronological changes in the size of maxillary defect].

Use of a maxillary prosthesis is now considered one of the good methods to ameliorate the crippling caused by the defect in the maxillary palate area after an ablative procedure for a maxillary tumor and it consumes no physical resources from the patient. There has been debate on whether the prosthesis should be made in the very early postoperative days or after the wound is stabilized. In this study, changes in the area of the defect in the palate after surgery were investigated by using plaster models from clinical cases we have experienced. Twenty-one cases were investigated according to the following features: "maxillary sinus cancer "+" more than 1.5 years of follow-up for maxillofacial prosthetics "+" presence of more than two casts of the case". These casts were photographed from a distance of 1.5 m, and the photographs were enlarged to the original size of the cast, then the defect area was measured with a Planimeter (Uchida Co. Ltd). The area of the defect had shrunk in 16 cases. It took over 1 year to get stabilized in 80% of the cases. It is believed to take around 3.5 years for all cases to become stable. This tendency had no relationship with the pattern of the defect, the stroke of the mouth opening, the pattern of the rest of the teeth, or the defect area itself. These findings suggest that it may be advisable to start the prosthetic work as early as possible rather than waiting for stability of the defect wound, to improve the patients's QOL.

Adult↗

PubMed1993

[Maxillary prosthesis for better QOL--analysis of maxillary prosthesis stability].

We report here an analysis of 100 cases of maxillary prosthesis, experienced from July, 1981 through June, 1989, with special reference to stability. Sixty-four percent of prostheses were partial denture type and complete denture type comprised thirty-two percent. Eighty-six percent of cases were estimated to have defects exceeding 2/6 and 3/6 of the surface width of the palate. Ninety percent of prostheses weighed less than 15 gm. The stability of these prostheses was estimated to be good in 85% of cases, the stability of the denture type being good in 95% of partial denture type cases, and 62% of complete denture type cases. According to type distinctions among maxillary defects as a whole, in the smaller 1/6 and 2/6 defect cases, good stability can be expected, and in 3/6 and 4/6 defect cases, 80% achieve good stability. According to prosthesis weight, 80% of those weighing less than 15 gm were considered to have shown good stability. Thus, these maxillary prostheses can remain in place and functional ameliorating disability and contributing to the patient's quality of life.

Adult↗

PubMed1992

[Maxillary prosthesis for better QOL--early setting and faster construction of maxillary prosthesis].

The maxillofacial prosthesis (MFP) is well accepted as one of the modalities to ameliolate the postsurgical crippling in the patients with maxillary malignancy. In this report, we analyzed 55 primary cases of MFP out of 100, from July, 1981 to July, 1987 in terms of the time of start after operation, and the duration and procedure of the MFP-making. MFP-making set about within 4 weeks in 35% of patients, 8 weeks in 25%, 12 weeks in 22%, and more than 12 weeks in 18%. The completion of MFP-making averaged 10 days. As a result of simplifying of MFP-making, we shortened a period requiring MFP-making within 3 days in recent 10 cases. There were no adverse effects of early wear of MFP after operation. We believe that early wear of MFP after operation improve the quality of life of patients with maxillary malignancy and considered that wear of MFP is not the completion of treatment, but is one of the procedures of treatment for the patients undergone maxillectomy.

Adolescent↗

PubMed1990