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1.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 56(4): 374-376, 2021 Apr 09.
Artigo em Chinês | MEDLINE | ID: mdl-33832040

Assuntos
Anodontia , Incisivo , Humanos , Maxila
2.
Anticancer Res ; 41(4): 2083-2092, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33813418

RESUMO

BACKGROUND/AIM: Numerical aberrations of permanent dentition and dystopic tooth eruption are part of the phenotype of the tumor predisposition syndrome neurofibromatosis type 1 (NF1). In these cases, surplus tooth germs usually develop in the alveolar processes of the jaw. This report attests to the dystopic development of a dysplastic supernumerary tooth in NF1 arising outside the jaw. CASE REPORT: The 8-year-old male patient developed a microdont outside the bone and above the occlusal plane of the retained maxillary right second molar. The supernumerary tooth was completely embedded in oral soft tissue. Hyperplastic oral soft tissue in the molar region and microdont were excised. Specimen of the mucosa surrounding the teeth was interspersed with diffuse and plexiform neurofibroma. The retained upper right first molar emerged spontaneously within a few months after surgery. The upper right second molar did not change position. CONCLUSION: Odontogenesis can take place within tumorous oral mucosa in NF1. Surgical removal of the tumorous mucous membrane facilitates tooth eruption in some cases.


Assuntos
Processo Alveolar/patologia , Neoplasias Bucais/diagnóstico , Neurofibroma Plexiforme/diagnóstico , Neurofibromatose 1/diagnóstico , Erupção Ectópica de Dente/diagnóstico , Processo Alveolar/anormalidades , Processo Alveolar/diagnóstico por imagem , Processo Alveolar/cirurgia , Criança , Humanos , Masculino , Neoplasias Bucais/complicações , Neoplasias Bucais/patologia , Neoplasias Bucais/cirurgia , Neurofibroma Plexiforme/complicações , Neurofibroma Plexiforme/patologia , Neurofibroma Plexiforme/cirurgia , Neurofibromatose 1/complicações , Neurofibromatose 1/patologia , Neurofibromatose 1/cirurgia , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/etiologia , Anormalidades Dentárias/patologia , Anormalidades Dentárias/cirurgia , Erupção Ectópica de Dente/etiologia , Erupção Ectópica de Dente/cirurgia , Dente Decíduo/anormalidades , Dente Decíduo/diagnóstico por imagem , Dente Decíduo/patologia , Dente Decíduo/cirurgia , Dente Supranumerário/diagnóstico , Dente Supranumerário/etiologia , Dente Supranumerário/patologia , Dente Supranumerário/cirurgia
3.
J Clin Pediatr Dent ; 45(1): 58-62, 2021 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-33690831

RESUMO

OBJECTIVE: To determine the prevalence and distribution of premature eruption and agenesis of premolars in a sample of Turkish children. STUDY DESIGN: A sample of 1715 patients aged 5 to 11 years was selected. Panoramic radiographs were used to assess premature eruption and agenesis of premolars. Developmental stage of erupted premolars was assessed using Demirjian's method and selecting prematurely erupted premolars on the basis of clinical eruption with a root length less than half of their final expected root lengths. Statistical analysis was performed using chi-square test (p <.05). RESULTS: One hundred fifteen (6.7%) of 1715 patients presented at least one premolar agenesis with no significant sex difference (56 boys, 59 girls). Mandibular second premolars were the most absent teeth. Multiple agenesis of premolars (3.4%) was more common than single agenesis (3.3%). A total of 85 (5.0%) patients (51 boys, 34 girls; no significant sex difference) had at least one prematurely erupted premolar, and maxillary first premolars were most commonly affected. Early erupted premolars were in stage D or E based on Demirjian's dental formation scale. CONCLUSIONS: The prevalence of premature eruption and agenesis of premolars in Turkish children were 5.0% and 6.7%, respectively. Both conditions are not uncommon and may highlight the need for early diagnosis to prevent subsequent clinical problems.


Assuntos
Anodontia , Odontogênese , Anodontia/epidemiologia , Dente Pré-Molar , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Prevalência , Radiografia Panorâmica , Estudos Retrospectivos
5.
Int J Oral Sci ; 13(1): 2, 2021 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-33419968

RESUMO

The goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence of these variants. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants in five families with nonsyndromic oligodontia, and a series of bioinformatics databases were used for variant confirmation and functional prediction. Phenotypic characterization of the members of these families was described, and an in vitro analysis was performed for functional evaluation. Five novel MSX1 heterozygous variants were identified: three missense variants [c.662A>C (p.Q221P), c.670C>T (p.R224C), and c.809C>T (p.S270L)], one nonsense variant [c.364G>T (p.G122*)], and one frameshift variant [c.277delG (p.A93Rfs*67)]. Preliminary in vitro studies demonstrated that the subcellular localization of MSX1 was abnormal with the p.Q221P, p.R224C, p.G122*, and p.A93Rfs*67 variants compared to the wild type. Three variants (p.Q221P, p.G122*, and p.A93Rfs*67) were classified as pathogenic or likely pathogenic, while p.S270L and p.R224C were of uncertain significance in the current data. Moreover, we summarized and analysed the MSX1-related tooth agenesis positions and found that the type and variant locus were not related to the severity of tooth loss. Our results expand the variant spectrum of nonsyndromic oligodontia and provide valuable information for genetic counselling.


Assuntos
Anodontia , Fator de Transcrição MSX1 , Anodontia/genética , Humanos , Fator de Transcrição MSX1/genética , Linhagem , Sequenciamento Completo do Exoma
6.
Compend Contin Educ Dent ; 42(1): 34-37, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33481624

RESUMO

Esthetic dilemmas often require an interdisciplinary approach to achieve an optimal result. This article describes such a case in which the patient presented with unesthetic porcelain crowns on structurally compromised maxillary anterior teeth. The maxillary incisors had failing root canals, advanced mobility, and deep periodontal pockets. In addition, there was a congenitally missing maxillary lateral incisor. The canine substitution created a severely canted appearance exacerbated by the patient's high smile line. A coordinated interdisciplinary treatment plan was put into action to satisfy the patient's chief complaints and achieve a successful outcome. In this instance, this approach involved a periodontist, orthodontist, and prosthodontist, as well as initial input from an endodontist.


Assuntos
Anodontia , Estética Dentária , Humanos , Incisivo , Maxila , Técnicas de Movimentação Dentária
7.
Environ Health Prev Med ; 26(1): 11, 2021 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-33478389

RESUMO

BACKGROUND: Systemic and local factors may lead to disruption of craniofacial growth and development, causing an imbalance between the orofacial skeleton, muscle and soft tissue, dental occlusion, and the dental arch during growth periods. We aimed to reveal whether the prevalence of incompetent lip seal (ILS) varies with age and region, as well as to clarify the factors related to an ILS, in a national, large-scale epidemiological study. METHODS: We surveyed 3399 children, from 3 to 12 years of age, visiting 66 pediatric dental clinics throughout Japan. For this survey, we employed a questionnaire consisting of 44 questions regarding daily health conditions and lifestyle habits. We evaluated the differences in ILS prevalence by age and region (using a Cochran-Armitage test for trend and a Kruskal-Wallis test), and the relationship between ILS and factors investigated in the questionnaire (using Spearman's rank correlation coefficient). RESULTS: We observed that 30.7% of Japanese children exhibited an ILS and that the ILS rate increased with age (p < 0.001). There were no regional differences in the rate of ILS in Japanese children (p = 0.506). We revealed that 12 of 44 survey items exhibited a statistically significant correlation with ILS (p < 0.001), using Spearman's rank correlation coefficient. These items involved orofacial morphology, mouth breathing, and possibly, allergic rhinitis. CONCLUSION: The rate of ILS seems to increase with age in children, throughout Japan. Therefore, this disorder may not self-correct during the growth periods in these children. Guidelines are required for pediatric dentists to recognize ILS among children aged 3-12 years.


Assuntos
Lábio/anormalidades , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Japão/epidemiologia , Masculino , Prevalência
8.
Orv Hetil ; 162(5): 192-199, 2021 01 31.
Artigo em Húngaro | MEDLINE | ID: mdl-33517333

RESUMO

Összefoglaló. Az Axenfeld-Rieger-szindróma ritka betegség. A közlemény bemutatja a klinikai megjelenési formáit, a diagnosztikus és terápiás lehetoségeket. A szemgolyó elülso szegmentumát érinto fejlodési rendellenességek vizsgálata a hagyományos biomikroszkópos vizsgálat mellett digitális kamerával is történhet, mely a csarnokzugi képleteket nagy nagyításban, éles képet mutatva tudja megjeleníteni. Az elülso szegmentum leképezését segíto optikaikoherencia-tomográfia és ultrahang-biomikroszkópia a fejlodési rendellenességnek és a csarnokvíz-elvezeto sönt tubusának vizsgálatára, megjelenítésére is alkalmas. A szemnyomást a gyermek kooperációjának függvényében többféle módon mérhetjük. A szabálytalan alakú, sokszor csak résnyi pupilla, valamint a szemnyomás-emelkedés miatt szemészeti beavatkozás lehet szükséges. A korai pupillaképzés az amblyopia megelozését, az antiglaucomás mutétek (trabeculectomia, hosszú tubusú sönt implantációja) pedig a látási funkciók megorzését szolgálják. A szemészeti mutéteket akár már néhány hónapos korban szükséges elvégezni altatásban. A maxillahypoplasia és a fogászati fejlodési anomáliák miatt kétirányú panoráma-röntgenfelvétel szükséges. Többlépcsos fogászati konzervatív és restoratív kezelés hozhat eredményt. A diagnózis felállítása és a kezelés is multidiszciplináris megközelítést igényel. Gyermekgyógyász, genetikus, kardiológus, fogász-szájsebész és gyermekszemész együttes munkája biztosíthat megfelelo eredményt. Orv Hetil. 2021; 162(5): 192-199. Summary. Axenfeld-Rieger syndrome is a rare disease. Our paper presents its clinical manifestations, diagnostic and therapeutic options. Due to maxillary hypoplasia and dental developmental anomalies, bidirectional panoramic radiography is required. Multi-stage dental conservative and restorative treatment can provide better results. In addition to traditional biomicroscopic examination, developmental abnormalities affecting the anterior segment of the eye can also be examined with a digital camera, which can display the angle of the anterior chamber at high magnification, with a sharp image. Anterior segment optical coherence tomography and ultrasound biomicroscopy are also suitable for the examination and display of developmental abnormalities and drainage shunt tubes. Intraocular pressure can be measured in several ways depending on the child's cooperation. Due to the irregular shape of the pupil, often with only a slit aperture, and an increase in intraocular pressure, ophthalmic intervention may be required. The pupilloplasty is important preventing amblyopia prevention and early glaucoma surgery (trabeculectomy, shunt implantation) helps to preserve visual function. Eye surgeries need to be performed under anaesthesia, sometimes at few months of age. Both diagnosis and treatment require a multidisciplinary approach. The joint work of a paediatrician, geneticist, cardiologist, dental-oral surgeon and paediatric ophthalmologist may provide a satisfactory result. Orv Hetil. 2021; 162(5): 192-199.


Assuntos
Segmento Anterior do Olho/anormalidades , Dentição , Anormalidades do Olho , Oftalmopatias Hereditárias , Criança , Humanos , Microscopia Acústica , Radiografia Panorâmica , Doenças Raras , Tomografia de Coerência Óptica
9.
Methods Mol Biol ; 2181: 269-286, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32729086

RESUMO

The type I interferonopathies comprise a heterogenous group of monogenic diseases associated with a constitutive activation of type I interferon signaling.The elucidation of the genetic causes of this group of diseases revealed an alteration of nucleic acid processing and signaling.ADAR1 is among the genes found mutated in patients with this type of disorders.This enzyme catalyzes the hydrolytic deamination of adenosines in inosines within a double-stranded RNA target (RNA editing of A to I). This RNA modification is widespread in human cells and deregulated in a variety of human diseases, ranging from cancers to neurological abnormalities.In this review, we briefly summarize the knowledge about the RNA editing alterations occurring in patients with mutations in ADAR1 gene and how these alterations might cause the inappropriate IFN activation.


Assuntos
Doenças Genéticas Inatas/genética , Interferon Tipo I/genética , Edição de RNA/fisiologia , Adenosina Desaminase/genética , Doenças da Aorta/genética , Doenças Autoimunes do Sistema Nervoso/genética , Hipoplasia do Esmalte Dentário/genética , Humanos , Imunidade Inata/genética , Interferon Tipo I/metabolismo , Metacarpo/anormalidades , Doenças Musculares/genética , Malformações do Sistema Nervoso/genética , Odontodisplasia/genética , Osteoporose/genética , RNA de Cadeia Dupla/genética , Proteínas de Ligação a RNA/genética , Transdução de Sinais/genética , Transdução de Sinais/imunologia , Calcificação Vascular/genética
10.
J Am Dent Assoc ; 152(4): 318-328, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33323284

RESUMO

BACKGROUND AND OVERVIEW: Tooth agenesis is the most common congenital condition affecting the oral cavity. This condition can involve single or multiple missing teeth. Severe forms of tooth agenesis are best managed by a team of specialists, as they can be daunting for a single provider. CASE DESCRIPTION: As the goal of most patients is to replace missing teeth to improve cosmesis and function, a prosthodontist or restorative dentist plays a major role in the team's effort. Although diagnostic skills and careful planning are still the mainstay of this treatment, digital technology and modern materials can greatly facilitate implementation of the treatment plan. The authors present a case of a patient with nonsyndromic oligodontia who had a deficient occlusal vertical dimension that was treated by means of an interdisciplinary approach. The management included a combination of orthodontics, fixed and removable prosthodontics, and oral surgery. CONCLUSIONS AND PRACTICAL IMPLICATIONS: When treating patients with complex congenital tooth anomalies, the prosthodontist or restoring dentist is well positioned to take the lead and orchestrate treatment of the patient.


Assuntos
Anodontia , Anormalidades Dentárias , Dente , Anodontia/terapia , Humanos , Planejamento de Assistência ao Paciente
11.
Eur J Paediatr Dent ; 21(4): 292-298, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33337905

RESUMO

AIM: To evaluate the frequency and distribution of dental anomalies (DA) in a paediatric population. MATERIALS AND METHODS: Panoramic digital radiographs of children between 6 and 12 years old performed at a reference centre for radiographic exams were accessed. Two calibrated examiners evaluated the radiographs. The association between variables and outcomes was assessed using non-parametric tests. The significance level was set at 5%. RESULTS: Five hundred and twelve individuals were included and 61.3% presented at least one DA. The mean age of patients with DA (9.35±1.60) was significantly higher compared to patients with no anomalies (7.90±1.58). Patients with supernumerary tooth, however, were significantly younger. The most frequent DA were permanent tooth radicular dilacerations (38.1%), permanent tooth agenesis (29.3%), supernumerary tooth (6.4%) and impacted tooth (6.4%). Anterior teeth and female patients were more affected by radicular dilacerations. Dental agenesis was more frequent in the third molars followed by the upper lateral incisor. CONCLUSION: DA are quite frequent in the paediatric population and the most common DA observed herein could only be identified through imaging exams. The most appropriate timing to perform an investigation for the detection of dental anomalies appears to be between 9 and 10 years old.


Assuntos
Anodontia , Anormalidades Dentárias , Dente Supranumerário , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Criança , Feminino , Humanos , Prevalência , Radiografia Panorâmica , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/epidemiologia , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/epidemiologia
12.
PLoS One ; 15(12): e0244506, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33370403

RESUMO

Cleft lip with or without cleft palate (CLP) is considered the most frequent congenital malformations of the head and neck, with cleft individuals exhibiting more chances of presenting abnormalities such as developmental defects of enamel (DDE). Matrix metallopeptidase 2 (MMP2) is a membrane-bound protein with collagen-degrading ability and has important roles in tooth formation and mineralization. The aim of this study was to evaluate the frequency, location, severity and extent of DDE found in the maxillary incisors for groups of individuals born with CLP, as well as understanding their relationship with the cleft side. Besides, this study addresses the hypothesis that DDE can be influenced by variation in the MMP2 genes (rs9923304). Individual samples, clinical history, intraoral photographs and panoramic radiographs were obtained from 233 patients under treatment at the Cleft Lip and Palate Service of the University Hospital Lauro Wanderley at the Federal University of Paraíba. Digital images were examined by the same evaluator using the Classification of Defects According to the Modified DDE Index, and then loaded into the Image Tool software, where two measurements were made: total area of the buccal surface (SA) and the area of the DDE (DA), obtaining the percentage of the surface area affected (%SAD) (ICC = 0.99). Genomic DNA was extracted from saliva samples from 124 participants. Genotyping was carried out using TaqMan chemistry for one marker in MMP2 (rs9923304). Statistical analyses were performed by The Jamovi Project software. The Shapiro-Wilk test was applied, followed by the Student's t-test and the Mann-Whitney test. Chi-square and Fisher's exact tests, and odds ratio (OR) with 95% confidence interval (CI) calculations were used to determine Hardy-Weinberg equilibrium and statistically significant differences with an alpha of 0.05. No significant differences in the prevalence and extent of enamel defects were found between male and female individuals born with CLP (p = 0.058256). The frequency of individuals presenting teeth with DDE, in relation to the cleft and non-cleft side, was statistically different (p <0.001; OR = 7.15, CI: 4.674> 7.151> 10.942). However, the averages of %SAD were similar (p = 0.18). The highest means of the %SAD were found in individuals with bilateral cleft lip with or without cleft palate (BCLP) when compared to individuals with unilateral cleft lip with or without cleft palate (UCLP), for the teeth inside (IA) and outside the cleft area (OA) (p <0.001). Regardless of the cleft side, individuals with BCLP were 7.85 times more likely to have more than one third of the tooth surface affected, showing more frequently defects in the three thirds (OA: p <0.001) (IA: p = 0.03), as well as a higher frequency of more than one type of defect (OA: p = 0.000358) (IA: p = 0.008016), whereas in UCLP, defects were isolated and restricted to only one third, more frequently, the incisal third (OA: p = 0.009) (IA: p = 0.001), with greater frequency of milder defects, such as demarcated (p = 0.02) and diffuse (p = 0.008) opacities. A higher frequency of the T allele, less common, was observed in the group of CLP individuals who had all the affected teeth or at least two teeth with %SAD greater than 20% (p = 0.019843). Our results suggest that MMP2 may have a role in the cases that presented DDE and genotyping rs9923304 could serve as the basis for a genomic approach to define risks for individuals born with CLP. Frequency and severity of DDE is strongly related to the CLP phenotype, since the highest values were found for BCLP. However, the extent of the DDE is independent of its relationship with the side of the cleft.


Assuntos
Fenda Labial/complicações , Fissura Palatina/complicações , Hipoplasia do Esmalte Dentário/epidemiologia , Esmalte Dentário/anormalidades , Incisivo/anormalidades , Adolescente , Adulto , Biomarcadores , Criança , Fenda Labial/genética , Fissura Palatina/genética , Estudos de Coortes , Estudos Transversais , Esmalte Dentário/diagnóstico por imagem , Esmalte Dentário/crescimento & desenvolvimento , Hipoplasia do Esmalte Dentário/diagnóstico , Hipoplasia do Esmalte Dentário/genética , Feminino , Humanos , Incisivo/diagnóstico por imagem , Incisivo/crescimento & desenvolvimento , Masculino , Metaloproteinase 2 da Matriz/genética , Maxila , Fotografação , Polimorfismo de Nucleotídeo Único , Radiografia Panorâmica , Índice de Gravidade de Doença , Adulto Jovem
13.
Dental press j. orthod. (Impr.) ; 25(6): 69-78, Nov.-Dec. 2020. tab, graf
Artigo em Inglês | LILACS-Express | LILACS, BBO - Odontologia | ID: biblio-1154057

RESUMO

ABSTRACT Introduction: Tooth agenesis is often associated with other tooth anomalies, such as microdontia, delayed eruption and ectopic eruption. Moreover, they may be found all in the same individual, as certain genetic mutations may have a variable phenotypic expression. Treatment of cases of hypodontia of anterior teeth should not involve only opening or closing space for prosthetic rehabilitation. Individuals with hypodontia of permanent maxillary lateral incisors may have teeth with a mesiodistal width smaller than that of patients with a normal dentition, and which may need reshaping to achieve an esthetic and functional occlusion. Objective: This clinical case report discusses the association of hypodontia of permanent maxillary lateral incisors with other tooth anomalies and their treatment alternatives.


RESUMO Introdução: As agenesias dentárias são frequentemente associadas a outras anomalias dentárias, tais como microdontia, atraso na erupção e ectopismo. Além disso, podem vir todas juntas em um mesmo indivíduo, pois certas mutações genéticas podem se expressar fenotipicamente de diferentes formas. A abordagem terapêutica nos casos de hipodontia de dentes anteriores não deve se pautar somente entre fechar ou abrir espaço para substituição protética. Portadores de hipodontia de incisivos laterais superiores permanentes podem apresentar os outros dentes com largura mesiodistal menor que os de pacientes com dentição normal, e podem necessitar de reanatomizações para que se obtenha uma oclusão dentária estética e funcional. Objetivo: Dessa forma, o objetivo do presente artigo é relatar um caso clínico e discutir a associação da hipodontia de incisivos laterais superiores permanentes com outras anomalias dentárias, e suas alternativas de tratamento.

14.
Medicentro (Villa Clara) ; 24(4): 833-841, oct.-dic. 2020. graf
Artigo em Espanhol | LILACS | ID: biblio-1143250

RESUMO

RESUMEN Los dientes retenidos pueden asociarse a enfermedades de diversa índole con complicaciones: mecánicas, nerviosas, infecciosas, quísticas y tumorales. El objetivo de esta investigación es informar un caso de quiste dentígero y odontoma concurrentes, asociados a un canino superior retenido. Se presentó un paciente de 15 años que acudió al Servicio de Cirugía Maxilofacial de la Facultad de Estomatología, con evidente aumento de volumen en la superficie vestibular de reborde alveolar superior en la zona del 13, y desplazamiento progresivo coronal distal del 12. Se realizaron: interrogatorio, examen clínico y estudio radiográfico; se observó retención del 13, con asociación de área radiopaca redondeada definida y con área radiolúcida circunscrita. Se realizó una biopsia de los tejidos descritos y se obtuvo un diagnóstico de quiste dentígero y odontoma complejo. El fenómeno de retención dentaria aparece de forma concomitante con otras lesiones que pueden producir destrucción ósea y desorden de posición y número.


ABSTRACT Retained teeth can be associated with a variety of diseases with mechanical, nervous, infectious, cystic and tumoral complications. The aim of this research is to report a case of concurrent dentigerous cyst and odontoma, associated with a retained upper canine. We present a 15-year-old patient who comes to the Maxillofacial Surgery Service from the Dental Faculty due to an evident volume increase in the vestibular surface of the maxillary alveolar ridge in 13 area, and progressive distal coronal displacement of 12. An interview, a clinical examination and a radiographic study were performed; tooth retention of 13 was observed, with association of defined rounded radiopaque area and circumscribed radiolucent area. A biopsy of the described tissues was performed and a diagnosis of dentigerous cyst and complex odontoma was obtained. The phenomenon of tooth retention appears concomitantly with other lesions that can produce bone destruction and disorder of position and number.


Assuntos
Anormalidades Dentárias , Cisto Dentígero , Anodontia
15.
Prog Orthod ; 21(1): 36, 2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33000308

RESUMO

OBJECTIVE: To compare the accuracy of complete-arch scans and quadrant scans obtained using a direct chairside intraoral scanner. MATERIAL AND METHODS: Intraoral scans were obtained from 20 adults without missing teeth except for the third molar. Maxillary and mandibular complete-arch scans were carried out, and 4 quadrant scans for each arch were performed to obtain right posterior, right anterior, left anterior, and left posterior quadrant scans. Complete-arch scans and quadrant scans were compared with corresponding model scans using best-fit surface-based registration. Shell/shell deviations were computed for complete-arch scans and quadrant scans and compared between the complete-arch scans and each quadrant scans. In addition, shell/shell deviations were calculated also for each individual tooth in complete-arch scans to evaluate factors which influence the accuracy of intraoral scans. RESULTS: Complete-arch scans showed relatively greater errors (0.09 ~ 0.10 mm) when compared to quadrant scans (0.05 ~ 0.06 mm). The errors were greater in the maxillary scans than in the mandibular scans. The evaluation of errors for each tooth showed that the errors were greater in posterior teeth than in anterior teeth. Comparing the right and left errors, the right side posterior teeth showed a more substantial variance than the left side in the mandibular scans. CONCLUSION: The scanning accuracy has a difference between complete-arch scanning and quadrant scanning, particularly in the posterior teeth. Careful consideration is needed to avoid scanning inaccuracy for maxillary or mandibular complete-arch, particularly in the posterior area because a complete-arch scan might have potential error than a quadrant scan.


Assuntos
Anodontia , Mandíbula/diagnóstico por imagem , Adulto , Algoritmos , Humanos
16.
N Z Med J ; 133(1523): 41-54, 2020 10 09.
Artigo em Inglês | MEDLINE | ID: mdl-33032302

RESUMO

AIM: The aim of this study was to determine the prevalence of dental developmental disturbances in long-term survivors of childhood malignancies in New Zealand children. This study reports associations with potential risk factors to inform oncologists and dentists of the likelihood of dental abnormalities. METHODS: The study population was children aged 14-16 years old who were diagnosed with cancer prior to 10 years of age. A total of 156 children were eligible, of which 59 participated in this study. The indices used in this study were Holtta's Defect Index (HDI), and Oral Health Impact Profile-14 (OHIP-14). RESULTS: The prevalence of agenesis was 15.3%, microdontia 6.8% and root abnormalities 32.2%. Cyclophosphamide equivalent doses above 8,000mg/m2, stem cell therapy (SCT), and head and neck radiation therapy (HNRT) were associated with a higher mean number of teeth missing due to agenesis. SCT and HNRT were associated with a higher total HDI. A binary logistic regression was carried out to determine the odds of agenesis and found that HNRT was the main contributing factor (OR=7.7, p-value=0.04). The linear regression model found that dactinomycin and agenesis correlated with the largest mean OHIP-14. CONCLUSION: This study found that childhood cancer survivors in New Zealand had a high prevalence of developmental dental abnormalities and it identified potential risk factors related to their cancer treatment. Inequitable access to oral rehabilitation for this patient group argues for a mechanism for consistent improved access to publicly funded dental care across district health boards in New Zealand.


Assuntos
Anodontia , Sobreviventes de Câncer/estatística & dados numéricos , Neoplasias , Adolescente , Anodontia/complicações , Anodontia/epidemiologia , Antineoplásicos Alquilantes/efeitos adversos , Antineoplásicos Alquilantes/uso terapêutico , Estudos Transversais , Ciclofosfamida/efeitos adversos , Ciclofosfamida/uso terapêutico , Feminino , Humanos , Masculino , Neoplasias/complicações , Neoplasias/epidemiologia , Neoplasias/terapia , Nova Zelândia , Prevalência , Radioterapia/efeitos adversos , Transplante de Células-Tronco/efeitos adversos
17.
Medicine (Baltimore) ; 99(44): e22816, 2020 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-33126320

RESUMO

RATIONALE: Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature. PATIENT CONCERNS: A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities. DIAGNOSES: Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results. INTERVENTIONS: The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age. OUTCOMES: No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present. LESSONS: The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes.


Assuntos
Anodontia/sangue , Mama/anormalidades , Fissura Palatina/sangue , Displasia Ectodérmica/sangue , Dedos/anormalidades , Deformidades Congênitas da Mão/sangue , Obstrução dos Ductos Lacrimais/sangue , Deformidades Congênitas dos Membros/sangue , Unhas Malformadas/sangue , Transtornos da Pigmentação/sangue , Fatores de Transcrição/análise , Proteínas Supressoras de Tumor/análise , Adolescente , Anodontia/genética , Fissura Palatina/genética , Displasia Ectodérmica/genética , Deformidades Congênitas da Mão/genética , Humanos , Japão , Obstrução dos Ductos Lacrimais/genética , Deformidades Congênitas dos Membros/genética , Masculino , Mutação/genética , Unhas Malformadas/genética , Transtornos da Pigmentação/genética , Fatores de Transcrição/sangue , Proteínas Supressoras de Tumor/sangue
19.
Medicine (Baltimore) ; 99(35): e21939, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-32871938

RESUMO

RATIONALE: Maturity-onset diabetes of the young type 5 (MODY 5) is a form of monogenic diabetes that is often accompanied by pancreatic dysfunction. To date, no cases of MODY 5 treated with glucagon-like peptide-1 receptor agonist (GLP-1RA) have been reported. We present the first case of MODY 5 treated with GLP-1RA. PATIENT CONCERNS: A 17-year-old woman, with a history of being operated for congenital ileal atresia at birth, was admitted to our hospital due to hyperglycemia. She had been clinically diagnosed with type 1 diabetes 1 month prior, and administered 14 units of insulin glargine 300 U/mL per day. DIAGNOSIS: She had hypopotassemia, hypomagnesaemia, pancreatic body, and tail defects, multiple renal cysts, and a family history of diabetes, and urogenital anomaly. Genetic testing revealed heterozygous deletion of hepatocyte nuclear transcription factor-1 beta, leading to the diagnosis of MODY 5. INTERVENTIONS: The patient was treated with multiple daily insulin injections for 9 days (22 units/d) before administration of GLP-1RA, and then liraglutide was initiated. OUTCOMES: Liraglutide treatment (0.6 mg/d) alone maintained the patient's glycated hemoglobin level below 7.0% for at least 12 months after discharge. A higher dose, 0.9 mg/d, of liraglutide was not tolerated by the patient due to nausea. Serum levels of C-peptide immunoreactivity were 1.15 ng/mL and 1.91 ng/mL, respectively, after 6 and 12 months of liraglutide therapy. LESSONS: GLP-1RA might be effective at regulating glucose metabolism by utilizing residual pancreatic endocrine function in patients with MODY 5. Imaging and genetic screening were helpful in the diagnosis of MODY 5.


Assuntos
Doenças do Sistema Nervoso Central/tratamento farmacológico , Esmalte Dentário/anormalidades , Diabetes Mellitus Tipo 2/tratamento farmacológico , Receptor do Peptídeo Semelhante ao Glucagon 1/agonistas , Hipoglicemiantes/uso terapêutico , Doenças Renais Císticas/tratamento farmacológico , Liraglutida/uso terapêutico , Adolescente , Doenças do Sistema Nervoso Central/diagnóstico por imagem , Esmalte Dentário/diagnóstico por imagem , Diabetes Mellitus Tipo 2/diagnóstico por imagem , Feminino , Humanos , Hipoglicemiantes/farmacologia , Doenças Renais Císticas/diagnóstico por imagem , Liraglutida/farmacologia , Pâncreas/diagnóstico por imagem
20.
Medicine (Baltimore) ; 99(31): e21438, 2020 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-32756155

RESUMO

RATIONALE: Mutations in the hepatocyte nuclear factor-1-beta (HNF1B) gene result in a very variable presentation, including maturity onset diabetes of the young (MODY), renal cysts, renal dysplasia, and autosomal dominant tubulointerstitial kidney disease (ADTKD), which is characterized by tubular damage, renal fibrosis, and progressive renal dysfunction. PATIENT CONCERNS: A 22-year-old man came to the hospital presenting with hyperglycemia, hyperuricemia and elevated serum creatinine. His urine protein was within the normal range. The ultrasound examination revealed shrunken kidneys with renal cysts. The patient's mother was diagnosed with diabetes mellitus when she was 25 years old. Her laboratory results showed elevated serum creatinine. Her ultrasonography revealed shrunken kidneys with renal cysts and hydronephrosis without kidney stones. The next-generation sequencing revealed that the proband and his mother held the same heterozygous missense mutation (c.530G>A, NM_000458, p.R177Q) in the HNF1B gene. Bioinformatic analyses predicted that the mutation was likely pathogenic. DIAGNOSIS: The patient and his mother were diagnosed as ADTKD and MODY5 due to HNF1B mutation. INTERVENTION: The proband was administered metformin at a dose of 500 mg/day. OUTCOMES: The patient had well-controlled blood glucose levels and a stable renal function at his 12-month follow-up. LESSONS: We should take into account the diagnoses of ADTKD and MODY5 if patients present with early onset diabetes and multiple renal cysts or evidence of renal tubulointerstitial dysplasia, especially those with negative proteinuria results. Genetic testing helps detect the HNF1B gene mutations.


Assuntos
Doenças do Sistema Nervoso Central/genética , Esmalte Dentário/anormalidades , Diabetes Mellitus Tipo 2/genética , Fator 1-beta Nuclear de Hepatócito/genética , Doenças Renais Císticas/genética , Nefrite Intersticial/genética , Assistência ao Convalescente , Doenças do Sistema Nervoso Central/complicações , Doenças do Sistema Nervoso Central/tratamento farmacológico , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Hiperglicemia/etiologia , Hiperuricemia/etiologia , Hipoglicemiantes/administração & dosagem , Hipoglicemiantes/uso terapêutico , Rim/diagnóstico por imagem , Rim/patologia , Rim/fisiopatologia , Doenças Renais Císticas/complicações , Doenças Renais Císticas/tratamento farmacológico , Doenças Renais Císticas/patologia , Masculino , Metformina/administração & dosagem , Metformina/uso terapêutico , Mutação de Sentido Incorreto , Nefrite Intersticial/complicações , Nefrite Intersticial/patologia , Linhagem , Ultrassonografia/métodos , Adulto Jovem
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