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1.
J Oral Rehabil ; 50(1): 24-30, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36288407

RESUMO

BACKGROUND: Degenerative joint disease (DJD) of the temporomandibular joint (TMJ) is an important type of temporomandibular disorders (TMDs) potentially leading to orofacial pain and jaw dysfunction. Magnetic resonance imaging (MRI) is important in TMD diagnosis; however, its diagnostic ability for DJD remains unknown. OBJECTIVE: To explore the utility of MRI in diagnosing DJD according to the latest diagnostic criteria for TMD and detecting condylar bone abnormalities and their severity. METHODS: Overall, 122 participants were examined using cone-beam computed tomography (CBCT) and MRI. The sensitivity, specificity and accuracy of MRI for detecting DJD and different types of TMJ condylar bone abnormalities were calculated (considering CBCT as gold standard); in addition, we tested MRI and CBCT's consistency in scoring five types of condylar bone abnormalities. RESULTS: The sensitivity and specificity of MRI for DJD were 95.3% and 43.1%, respectively. The MRI sensitivities for condylar flattening, erosion, osteophytes, sclerosis and cysts were 98.6%, 96.2%, 79.4%, 50%, and 79.2% (specificity, 53.6%, 48.3%, 81.6%, 83.3%, and 88.2%, respectively), respectively. The consistency between MRI and CBCT in assessing the severity of condylar bone abnormalities was fair-to-moderate (kappa coefficient: 0.278-0.491). The inter-observer consistency for CBCT was good, whereas for MRI, it was relatively poor. CONCLUSION: MRI can detect DJD and condylar bone abnormalities. However, MRI could not efficiently detect the severity of condylar bone abnormalities.


Assuntos
Imageamento por Ressonância Magnética , Transtornos da Articulação Temporomandibular , Articulação Temporomandibular , Humanos , Tomografia Computadorizada de Feixe Cônico/métodos , Imageamento por Ressonância Magnética/métodos , Sensibilidade e Especificidade , Articulação Temporomandibular/diagnóstico por imagem , Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/diagnóstico , Transtornos da Articulação Temporomandibular/diagnóstico por imagem
2.
J Oral Rehabil ; 49(2): 150-159, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34562321

RESUMO

BACKGROUND: The effectiveness of platelet-rich plasma (PRP) injection combined with physical therapy for the treatment of temporomandibular joint osteoarthritis (TMJ-OA) has not been studied. OBJECTIVES: To assess the effectiveness of PRP injection combined with individualised comprehensive physical therapy for the treatment of TMJ-OA. METHODS: This prospective cohort study included 40 patients with TMJ-OA who received PRP injection or PRP injection combined with individualised comprehensive physical therapy. Pain intensity, maximum mouth opening, temporomandibular joint sounds, and the Jaw Functional Limitation Scale (JFLS) scores and imaging findings were compared before treatment and during follow-up. RESULTS: The pain intensity, maximum mouth opening, and temporomandibular joint sounds of the two groups significantly improved with an increase in treatment time (p < .05). The pain improvement in the combined treatment group was greater than that in the PRP injection group at 3 and 6 months (p < .05). The improvement of mouth opening was better in the combined treatment group, whereas the improvement of joint sounds was better in the PRP injection group. The improvement in JFLS scores in the combined treatment group was greater than that in the PRP injection group at 6 months (p < .05). The imaging improvement rates of the two groups were similar. CONCLUSIONS: Platelet-rich plasma injection can significantly improve pain, mouth opening, abnormal joint sound, and mandibular function in patients with TMJ-OA and has good repair effect on condylar bone defects. PRP injection combined with individualised comprehensive physical therapy can effectively control the medium- and long-term pain of patients.


Assuntos
Osteoartrite , Plasma Rico em Plaquetas , Humanos , Ácido Hialurônico , Injeções Intra-Articulares , Osteoartrite/terapia , Modalidades de Fisioterapia , Estudos Prospectivos , Articulação Temporomandibular , Resultado do Tratamento
3.
Arch Oral Biol ; 166: 106033, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38986191

RESUMO

OBJECTIVE: We aimed to describe jaw function characteristics in patients with anterior disc displacement without reduction (ADDWoR) using the jaw function limitation scale (JFLS), and to investigate the effects of biopsychosocial risk factors on limited jaw function. DESIGN: In this cross-sectional study of 636 patients with ADDWoR (females, 568; males, 68), we used the JFLS to assess jaw function. Behavioral, psychological, sociodemographic, and biomedical data were collected. Multivariate logistic regression analysis was used to determine risk factors affecting limited jaw function. A receiver operating characteristic curve was used to evaluate the predictive effect of these risk factors. RESULTS: ADDWoR-associated limitations included restricted jaw mobility and mastication, which exceeded median global functional limitations scale scores, especially mouth opening to bite an apple and chewing tough food. Females had greater limitations in jaw mobility, verbal and emotional communication, and overall. Multivariate logistic regression analysis findings indicated that oral behaviors, anxiety, sex, pain intensity, and maximal mouth opening (MMO) were predictive of limited jaw function (area under the curve, 72 %). CONCLUSION: Patients with ADDWoR reported mastication and jaw mobility restrictions, with females having more pronounced limitations, and specific risk factors identified as significant predictors of jaw function limitations. Along with pain relief and improvement in MMO, appropriate psychological counseling and oral behavioral correction facilitates recovery of jaw function in such patients.


Assuntos
Ansiedade , Mastigação , Humanos , Masculino , Feminino , Estudos Transversais , Mastigação/fisiologia , Adulto , Fatores de Risco , Ansiedade/fisiopatologia , Disco da Articulação Temporomandibular/fisiopatologia , Transtornos da Articulação Temporomandibular/fisiopatologia , Transtornos da Articulação Temporomandibular/psicologia , Luxações Articulares/fisiopatologia , Fatores Sexuais , Amplitude de Movimento Articular/fisiologia , Pessoa de Meia-Idade
4.
J Craniomaxillofac Surg ; 51(11): 668-674, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37852892

RESUMO

The study aimed to compare the efficacy of platelet-rich plasma (PRP) injections for the treatment of temporomandibular joint osteoarthritis (TMJ-OA) with hyaluronic acid (HA) therapy. This randomized controlled trial included 70 patients with TMJ-OA, randomly divided into either a PRP or HA group. The pain intensity, maximum mouth opening (MMO), TMJ sound score, and proportion of crepitus were recorded and compared at baseline and at 1, 3, and 6 months. Both groups showed statistically significant improvements in pain intensity, MMO, TMJ sound, and scale scores during the 6-month follow-up period. The improvements in pain intensity during mouth opening at 1 month, MMO at 1, 3, and 6 months, TMJ sound score at 1 and 3 months, and GAD-7 score at 6 months in the PRP group were greater than in the HA group (p < 0.05). Compared with the HA group, imaging improvement in the PRP group was also higher (p < 0.05). Within the limitations of the study it seems that the application of PRP therapy in TMJ-OA is should be considered whenever possible.


Assuntos
Osteoartrite , Plasma Rico em Plaquetas , Transtornos da Articulação Temporomandibular , Humanos , Articulação Temporomandibular , Osteoartrite/terapia , Ácido Hialurônico/uso terapêutico , Transtornos da Articulação Temporomandibular/terapia , Injeções Intra-Articulares , Resultado do Tratamento
5.
BMC Genomics ; 13: 648, 2012 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-23171398

RESUMO

BACKGROUND: Chinese fir (Cunninghamia lanceolata) is an important timber species that accounts for 20-30% of the total commercial timber production in China. However, the available genomic information of Chinese fir is limited, and this severely encumbers functional genomic analysis and molecular breeding in Chinese fir. Recently, major advances in transcriptome sequencing have provided fast and cost-effective approaches to generate large expression datasets that have proven to be powerful tools to profile the transcriptomes of non-model organisms with undetermined genomes. RESULTS: In this study, the transcriptomes of nine tissues from Chinese fir were analyzed using the Illumina HiSeq™ 2000 sequencing platform. Approximately 40 million paired-end reads were obtained, generating 3.62 gigabase pairs of sequencing data. These reads were assembled into 83,248 unique sequences (i.e. Unigenes) with an average length of 449 bp, amounting to 37.40 Mb. A total of 73,779 Unigenes were supported by more than 5 reads, 42,663 (57.83%) had homologs in the NCBI non-redundant and Swiss-Prot protein databases, corresponding to 27,224 unique protein entries. Of these Unigenes, 16,750 were assigned to Gene Ontology classes, and 14,877 were clustered into orthologous groups. A total of 21,689 (29.40%) were mapped to 119 pathways by BLAST comparison against the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. The majority of the genes encoding the enzymes in the biosynthetic pathways of cellulose and lignin were identified in the Unigene dataset by targeted searches of their annotations. And a number of candidate Chinese fir genes in the two metabolic pathways were discovered firstly. Eighteen genes related to cellulose and lignin biosynthesis were cloned for experimental validating of transcriptome data. Overall 49 Unigenes, covering different regions of these selected genes, were found by alignment. Their expression patterns in different tissues were analyzed by qRT-PCR to explore their putative functions. CONCLUSIONS: A substantial fraction of transcript sequences was obtained from the deep sequencing of Chinese fir. The assembled Unigene dataset was used to discover candidate genes of cellulose and lignin biosynthesis. This transcriptome dataset will provide a comprehensive sequence resource for molecular genetics research of C. lanceolata.


Assuntos
Cunninghamia/genética , Cunninghamia/metabolismo , Perfilação da Expressão Gênica , Genes de Plantas/genética , Lignina/biossíntese , Bases de Dados Genéticas , Anotação de Sequência Molecular , Proteínas de Plantas/genética , Análise de Sequência
6.
Chin J Dent Res ; 25(4): 285-291, 2022 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-36479894

RESUMO

OBJECTIVE: To investigate the expressions and clinicopathological features of glucose transporter 1 (GLUT-1), pyruvate kinase M2 (PK-M2) and hypoxia-inducible factor 1α (HIF-1α) in odontogenic keratocysts (OKCs), and to investigate the mutation status of v-raf murine sarcoma viral oncogene homolog B1 (BRAF). METHODS: Following a retrospective review of the clinicopathological data of 28 OKC cases, the expressions of GLUT-1, PK-M2 and HIF-1α in these tissue samples were detected through immunohistochemistry. The BRAF mutation statuses of all cases were examined using polymerase chain reaction amplification and direct sequencing. RESULTS: The expression levels of HIF-1α varied in 96.4% of OKC tissues, and there were higher positive rates of PKM2 (100%) and GLUT-1 (100%) in these tissues. None of the 28 OKC samples carried the BRAF mutation. CONCLUSION: The positive expressions of GLUT-1, PK-M2 and HIF-1α indicate that patients with OKCs undergo anaerobic glycolysis to a certain extent, but these processes appear to be irrelevant to clinicopathological features and to the BRAF mutation.


Assuntos
Cistos Odontogênicos , Proteínas Proto-Oncogênicas B-raf , Humanos , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Cistos Odontogênicos/genética , Piruvato Quinase
7.
Shanghai Kou Qiang Yi Xue ; 30(5): 531-534, 2021 Oct.
Artigo em Zh | MEDLINE | ID: mdl-34888608

RESUMO

PURPOSE: To test the reliability of the Chinese version of Oral Behaviours Checklist (OBC) and explore oral behavior characteristics of patients with temporomandibular disorders (TMD). METHODS: The English version of OBC was translated forward and backward to form the Chinese version of OBC. From July 2017 to April 2018, 540 TMD patients were included. Cronbach's α was used to evaluate the reliability of Chinese version of OBC. The characteristics of oral behaviors were evaluated by OBC. SPSS 19.0 software package was used to calculate the frequency of each behavior, and rank sum test was used to compare the distribution of oral behavior of TMD patients of different genders. RESULTS: The reliability of Chinese version of the OBC was good, Cronbach's α=0.771.There were certain oral behaviors in TMD patients, such as sleeping in a position that puts pressure on the jaw(52.9%), chewing food unilaterally(47.8%) and contacting teeth while not eating (33.2%). CONCLUSIONS: The Chinese version of OBC is a reliable tool for assessing oral behaviors. TMD patients have certain oral behaviors, which await further investigations.


Assuntos
Dor Facial , Transtornos da Articulação Temporomandibular , Lista de Checagem , Feminino , Humanos , Masculino , Mastigação , Reprodutibilidade dos Testes , Inquéritos e Questionários
8.
Beijing Da Xue Xue Bao Yi Xue Ban ; 41(1): 16-20, 2009 Feb 18.
Artigo em Zh | MEDLINE | ID: mdl-19221557

RESUMO

Keratocystic odontogenic tumors (KCOTs, previously known as odontogenic keratocysts) are aggressive, noninflammatory jaw lesions with a putative high growth potential and a propensity for recurrence. This article puts together a summary of the serial studies related to KCOTs undertaken by the author's research group in recent years. Intraosseous jaw cysts with a solely orthokeratinized lining epithelium have been suggested to differ from the typical KCOTs. We report 20 cases of such cyst type under the term of 'orthokeratinized odontogenic cyst (OOC)'. Apart from the presence of a keratinizing epithelial lining, the OOC lacks the other histological features of KCOT, exhibits little if any tendency to recur, has no apparent association with NBCCS, may be cured by simple enucleation, and may thus constitute its own clinical entity. Mutations in PTCH1 gene are responsible for NBCCS and are related in tumors associated with this syndrome. We have so far detected 26 PTCH1 mutations (2 mutations occurred twice) in 10 out of 34 (29.4%) sporadic and 14 out of 16 (87.5%) NBCCS-associated KCOTs. The 26 mutations consisted of 10 frameshift, 2 nonsense, 3 aberrant splicing, 4 in-frame insertion/deletion/ duplication and 7 missense mutations. Two missense mutations in PTCH2 were also detected in 2 out of 15 NBCCS related KCOT patients. By contrast, no pathogenic mutation was detected in SMO. Thus, our data, together with reports from other groups, indicate that defects of PTCH1 are involved in the pathogenesis of syndromic as well as sporadic KCOTs. The pathogenic role of PTCH2 requires further investigation. A series of in vitro studies on bone resorption of KCOTs and ameloblastomas were undertaken by this group. The results indicate that odontogenic lesions could promote bone resorption in vitro and it is likely to be related to some of the cytokines secreted by the lesions.


Assuntos
Neoplasias Maxilomandibulares/genética , Mutação , Cistos Odontogênicos/genética , Tumores Odontogênicos/genética , Receptores de Superfície Celular/genética , Humanos , Neoplasias Maxilomandibulares/metabolismo , Cistos Odontogênicos/metabolismo , Cistos Odontogênicos/cirurgia , Tumores Odontogênicos/metabolismo , Receptores Patched , Receptor Patched-1 , Receptor Patched-2 , Receptores Acoplados a Proteínas G/genética , Receptor Smoothened
9.
Beijing Da Xue Xue Bao Yi Xue Ban ; 40(1): 15-8, 2008 Feb 18.
Artigo em Zh | MEDLINE | ID: mdl-18278130

RESUMO

OBJECTIVE: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS). METHODS: Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs. PTCH2 mutations were detected by PCR-direct sequencing. RESULTS: 2 novel missence mutations(c.323 T>C,c.1319 C>T)of PTCH2 were identified and 9 polymorphisms (3 of which were novel) were determined in the present series. CONCLUSION: Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs. The pathogenetic role of these PTCH2 mutations is yet to be clarified.


Assuntos
Síndrome do Nevo Basocelular/genética , Cistos Odontogênicos/genética , Tumores Odontogênicos/genética , Receptores de Superfície Celular/genética , Adolescente , Adulto , Síndrome do Nevo Basocelular/complicações , Estudos de Casos e Controles , Criança , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Cistos Odontogênicos/complicações , Tumores Odontogênicos/complicações , Receptores Patched , Receptor Patched-1 , Receptor Patched-2 , Adulto Jovem
10.
Shanghai Kou Qiang Yi Xue ; 27(3): 289-292, 2018 Jun.
Artigo em Zh | MEDLINE | ID: mdl-30411126

RESUMO

PURPOSE: To observe the long-term clinical efficacy of comprehensive physiotherapy for patients with chronic anterior disc displacement of the temporomandibular joint (TMJ) without reduction (ADDWoR). METHODS: A total of 256 patients with chronic ADDwoR (the course of disease was 8.4±9.6 months) who completed the treatment in our hospital from January 2014 to December 2015 were followed up. Symptoms and function pre-treatment, post-treatment and during follow-up including the maximum active mouth opening (mm), visual analog scale(VAS), mandibular function impairment questionnaire (MFIQ) score were recorded and compared; recurrent frequency and symptoms were recorded and compared, too. SPSS 17.0 software package was used for analysis of variance of repeated measurement. RESULTS: The follow-up period was 30.5±4.6 months, the patients' maximum mouth opening: pre-treatmentpost-treatment>follow-up (P<0.05); the patients' MFIQ: pre-treatment>post-treatment> follow-up (P<0.05). 82.8% patients didn't have recurrent symptoms, 14.5% had recurrence and the symptoms were not improved in 2.7% of patients. Among 37 patients with symptomatic recurrent disease, 70.3% had pain, 13.5% had mouth opening limitation, and 13.6% had pain with mouth opening limitation. CONCLUSIONS: Comprehensive physical therapy can significantly relieve pain and improve mouth limitation in patients with chronic ADDwoR of TMJ, and long-term efficacy was good. The causes of recurrence in some patients need further study.


Assuntos
Luxações Articulares , Modalidades de Fisioterapia , Disco da Articulação Temporomandibular , Transtornos da Articulação Temporomandibular , Humanos , Amplitude de Movimento Articular , Articulação Temporomandibular , Transtornos da Articulação Temporomandibular/terapia , Resultado do Tratamento
11.
Shanghai Kou Qiang Yi Xue ; 25(5): 570-573, 2016 Oct.
Artigo em Zh | MEDLINE | ID: mdl-28116429

RESUMO

PURPOSE: This study aimed to evaluate the short-term efficiency of mandibular manipulation technique combined with exercise therapy and splint treatment of acute anterior TMJ disc displacement without reduction (ADDW), and TMJ disc-condyle relationship by magnetic resonance imaging (MRI). METHODS: Forty-four patients (37 females, 7 males) were diagnosed as acute ADDW and confirmed by MRI. All patients underwent mandibular manipulation, combined with exercise therapy, including jaw movement exercise, stabilization exercise, disc reposition exercise, and splint treatment. Anterior repositioning splint was wore only at night during sleep, while the mandible was kept in rest position during the day. The treatment was continued for 2 weeks. The baseline and endpoint outcome assessment measures were maximum active mouth opening, visual analogue scale (VAS) score of TMJ pain. Consecutive MRI was performed 1~3 months after treatment. SPSS 17.0 software package was used for statistical analysis. RESULTS: Two weeks after treatment, the patients' maximum active mouth opening increased from(22.6±6.1) mm to (43.9±3.3) mm, VAS score of pain decreased from 3.6±1.5 to 0.7±0.25. After treatment of 4.6±4.7 weeks on average, 20 patients (46%) displayed normal dis-condyle relationship, 16 patients(36%) had displacement with reduction, and 8 patients(18%) had displacement without reduction on MRI. CONCLUSIONS: Mandibular manipulation technique combined with exercise therapy and splint treatment seems to be useful in the treatment of anterior TMJ disc displacement with reduction, which can help to maintain the complete anatomic disc-condyle relationship.


Assuntos
Placas Oclusais , Disco da Articulação Temporomandibular , Transtornos da Articulação Temporomandibular/terapia , Adulto , Terapia por Exercício , Feminino , Humanos , Luxações Articulares , Imageamento por Ressonância Magnética , Masculino , Mandíbula , Dor , Contenções , Transtornos da Articulação Temporomandibular/cirurgia
12.
Int J Pharm ; 473(1-2): 398-406, 2014 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-25079431

RESUMO

This work was aimed to develop novel sildenafil citrate (SC)-loaded polyvinyl alcohol (PVA)-polyethylene glycol (PEG) graft copolymer (Kollicoat(®) IR)-based orally dissolving films (ODFs) using a solvent casting method. Formulation factors such as plasticizers and disintegrants were optimized on the basis of characteristics of blank ODFs. The SC-loaded ODF with a loading capacity up to 6.25mg in an area of 6 cm(2) was prepared and evaluated in terms of mechanical properties, disintegration time and dissolution rate. The physicochemical properties of drug-loaded ODF were also investigated using the scanning electron microscope (SEM), X-ray diffraction (XRD), differential scanning calorimetry (DSC) and Fourier transform infrared spectroscopy (FT-IR). The blank ODF composed of Kollicoat(®) IR, sodium alginate (ALG-Na) and glycerol (10:2:1.5, w/w) had a remarkably short disintegration time of about 20s. The SC-loaded ODF showed a delayed disintegration time (about 25s), but exhibited improved mechanical properties when compared to the blank ODF. SC was homogeneously dispersed throughout the ODF and the crystalline form of drug had been partly changed, existing strong hydrogen bonding between the drug and carriers. The Kollicoat(®) IR/ALG-Na based ODFs containing SC might be an alternative to conventional tablet for the treatment of male erectile dysfunction.


Assuntos
Portadores de Fármacos/química , Inibidores da Fosfodiesterase 5/química , Piperazinas/química , Polivinil/química , Sulfonamidas/química , Administração Oral , Varredura Diferencial de Calorimetria , Química Farmacêutica , Microscopia Eletrônica de Varredura , Purinas/química , Citrato de Sildenafila , Solubilidade , Espectroscopia de Infravermelho com Transformada de Fourier , Difração de Raios X
13.
J Endod ; 38(3): 293-6, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22341062

RESUMO

INTRODUCTION: In cases of failed root canal treatment, endodontic retreatment of the root canal system is necessary. The present study aimed to assess variation in the incidence and depth of residual filling material in dentinal tubules after gutta-percha removal with H-files, the ProTaper Universal System (Dentsply Maillefer, Ballaigues, Switzerland), and the SybronEndo K3 System (SybronEndo Corporation, Orange, CA). METHODS: Forty human mandibular premolars with single straight root canals were prepared with K-files (up to size 40) using the step-back technique and filled by cold lateral condensation with gutta-percha and AH Plus sealers (Dentsply DeTrey, Konstanz, Germany). After 1 year, the 40 teeth were divided into one control group and 3 retreatment groups (n = 10 each). Gutta-percha was removed using H-files, the ProTaper Universal System, or the SybronEndo K3 System. The teeth were sectioned, and the incidence and depth of residual filling material in the dentinal tubules were measured under scanning electron microscopy. RESULTS: The depth of filling material in the dentinal tubules did not differ significantly among groups (P > .05). Residual filling material was present in significantly more dentinal tubules in the ProTaper (P = .043) and K3 groups (P = .001) than in the H-file and control groups. CONCLUSIONS: The ProTaper Universal System and the SybronEndo K3 System left filling material in a greater proportion of dentinal tubules than did H-files.


Assuntos
Dentina/ultraestrutura , Guta-Percha/química , Materiais Restauradores do Canal Radicular/química , Clorofórmio/química , Ácido Edético/química , Resinas Epóxi/química , Humanos , Umidade , Teste de Materiais , Microscopia Eletrônica de Varredura , Retratamento , Irrigantes do Canal Radicular/química , Preparo de Canal Radicular/instrumentação , Preparo de Canal Radicular/métodos , Hipoclorito de Sódio/química , Solventes/química , Temperatura , Fatores de Tempo
14.
Int J Oral Sci ; 1(1): 34-8, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20690502

RESUMO

AIM: To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors. METHODOLOGY: Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. RESULTS: Four novel and two known mutations were identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T). CONCLUSION: Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.


Assuntos
Síndrome do Nevo Basocelular/genética , Mutação/genética , Tumores Odontogênicos/genética , Receptores de Superfície Celular/genética , Adolescente , Adulto , Sequência de Aminoácidos , Cromatografia Líquida de Alta Pressão , Códon sem Sentido/genética , Códon de Terminação/genética , Sequência Conservada/genética , Citosina , Éxons/genética , Feminino , Mutação da Fase de Leitura/genética , Duplicação Gênica , Mutação em Linhagem Germinativa/genética , Guanina , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Receptores Patched , Receptor Patched-1 , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Deleção de Sequência/genética , Síndrome , Treonina/genética , Timina
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