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1.
J Endod ; 50(6): 758-765, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38513792

RESUMO

INTRODUCTION: Orthognathic surgery has the potential to compromise the vitality of the teeth. This paper aims to assess changes in pulp blood flow (PBF) and pulp sensibility (PS) of the anterior dentition following orthognathic surgery and to assess the influence of the proximity of the surgical osteotomy on the PBF and/or PS. METHODS: Twenty-six patients undergoing orthognathic surgery (Le Fort I or bilateral sagittal split osteotomy [BSSO]) were compared to sixteen control patients treated by fixed appliances only using Laser Doppler flowmeter (LDF) and thermal testing (CO2 snow). Surgery patients were tested at T1 (presurgery), T2 (4-5 weeks postsurgery), T3 (3 months postsurgery), and T4 (6 months postsurgery). Control patients were tested at T1 (pretreatment), T2 (6 months posttreatment), T3 (12 months posttreatment), and T4 (18 months posttreatment). Differences between the maxilla and mandible were assessed. RESULTS: No differences in PBF or PS were recorded in the control group. In the surgery group, both jaws followed the same pattern after surgery, an initial decrease at T2 followed by a gradual recovery to pretreatment PBF levels with no significant difference between T1 versus T4 in both jaws. No difference in PBF was observed between the maxilla and mandible at any testing time interval. CONCLUSIONS AND CLINICAL IMPLICATIONS: PBF and PS of the anterior dentition was severely affected immediately postsurgery, followed by a gradual increase to full recovery. This pattern of recovery was exhibited in both jaws. A negative sensibility response or discoloration should not be seen as an indication of irreversible ischemic pulp changes. Monitoring for at least 6 months or using LDF as a confirmatory test is required before any irreversible endodontic treatment is to be considered.


Assuntos
Polpa Dentária , Fluxometria por Laser-Doppler , Procedimentos Cirúrgicos Ortognáticos , Humanos , Polpa Dentária/irrigação sanguínea , Polpa Dentária/fisiologia , Estudos Prospectivos , Feminino , Masculino , Adulto , Adulto Jovem , Fluxo Sanguíneo Regional/fisiologia , Adolescente , Osteotomia de Le Fort , Osteotomia Sagital do Ramo Mandibular/métodos , Mandíbula/cirurgia , Mandíbula/irrigação sanguínea
2.
Gen Dent ; 72(2): 48-54, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38411485

RESUMO

The purpose of this research was to test the reliability of a modified magnification method for determining the position of an impacted canine from a single panoramic radiograph. This retrospective study evaluated 114 panoramic radiographs showing 136 impacted maxillary canines. The widths of the impacted canines, contralateral erupted canines, and ipsilateral maxillary incisors were measured, and ratios for the canine-incisor index (CII) and canine-canine index (CCI) were calculated. The impacted canines were also classified according to their location in the vertical plane (apical, middle, or coronal zone) relative to the contralateral central incisor. Continuous data were analyzed for normal distribution, and logistic and multivariate logistic regression models were conducted. The Benjamini-Hochberg procedure with a false discovery rate of 0.05 was used to account for multiple testing. The intrarater reliability was excellent for impacted canine, central incisor, and contralateral canine measurements (intraclass correlation coefficient > 0.9). The CII and vertical zone were strong predictors of an impacted canine position with clinically useful sensitivity and specificity values (0.69 and 0.74, respectively, based on an area under the curve concordance statistic of 0.75). A predictive range was evident for the CII of palatally (1.10-1.39) and buccally (0.90-1.19) impacted canines in the middle and coronal zones, respectively. The occurrence of palatal or buccal positioning was not significantly associated with the CCI (P = 0.2). The CII and vertical zone identified from a single panoramic radiograph can be used to determine the buccopalatal position of an impacted canine, with more reliability if the impacted canine crown is in the middle or coronal zone of the contralateral central incisor.


Assuntos
Dente Impactado , Humanos , Radiografia Panorâmica , Reprodutibilidade dos Testes , Estudos Retrospectivos , Dente Impactado/diagnóstico por imagem , Dente Canino/diagnóstico por imagem
3.
Cleft Palate Craniofac J ; : 10556656231219433, 2024 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-38343026

RESUMO

OBJECTIVE: This study aims to investigate genetic association between Non-syndromic Cleft lip with or without palate (NCLP) and 14 specific Single Nucleotide Polymorphism (SNPs) reported to be associated with NCLP from previous Genome Wide Association Studies (GWAS). DESIGN: A prospective case-control study. SETTING: Ministry of Health (MOH) Cleft and Craniofacial Clinic and Kuwait University. PATIENTS/PARTICIPANTS: One hundred sixty-four NCLP patients were recruited from MOH Cleft and Craniofacial clinic, and 491 controls from the Kuwait DNA bank established at Kuwait University. INTERVENTIONS: Total gDNA was extracted from whole blood withdrawn from patients and genotyped by real time PCR. Hardy-Weinberg Equilibrium was tested, and the set p value for significance (p < 0.05) was adjusted using the Benjamini - Hoochberg procedure to achieve 5% false discovery rate. MAIN OUTCOME MEASURES: Logistic regression multivariate analysis was used to test statistically significant differences between cases and controls. Genotyping both groups for the variants was determined through the allele discrimination software program. RESULTS: There was statistically significant difference between cases and controls in relation to two SNPs; LOC102724968 (rs13041247) (MAF cases/control = C (0.28/0.39) OR Homozygous = 1.30; 95% CI = 1.09-1.56, p = 0.0041) and PVT1 (rs987525) (MAF cases/control = A (0.41/0.27) OR heterozygous = 1.48; 95% CI =1.12-1.95, p = 0.0073), increasing the susceptibility to NCLP. CONCLUSIONS: Genetic variations are associated with the occurrence of oral clefts. Customized Next Generation Sequencing (NGS) panel to the Arab ethnicity is encouraged. In Addition, national preconception genetic carrier screening tests should expand to include common craniofacial anomalies.

4.
Angle Orthod ; 93(6): 675-682, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37407506

RESUMO

OBJECTIVES: To evaluate gingival phenotype (GP) and thickness (GT) using visual, probing, and ultrasound (US) methods and to assess the accuracy and consistency of clinicians to visually identify GP. MATERIALS AND METHODS: The GP and GT of maxillary and mandibular anterior teeth in 29 orthodontic patients (mean age 25 ± 7.5 years) were assessed using probing and US by a single examiner. General dentist and dental specialist assessors (n = 104) were shown intraoral photographs of the patients, including six repeated images, and asked to identify the GP via a questionnaire. RESULTS: An increasing trend in GT values of thin, medium, and thick biotype probe categories was found, though this was not statistically significant (P = .188). Comparison of probing method to determinations of GT made by US yielded slight agreement (κ = 0.12). Using the visual method, assessors' identification of the second GP determination ranged from poor to moderate agreement (κ = 0.29 to κ = 0.53). CONCLUSIONS: The probe method is sufficient in differentiating between different categories of GP. However, further research is required to assess the sensitivity of the probe method in recognizing phenotypes in the most marginal of cases. Assessors using the visual method lack the ability to identify GP accurately and consistently among themselves.


Assuntos
Gengiva , Incisivo , Humanos , Adolescente , Adulto Jovem , Adulto , Gengiva/diagnóstico por imagem , Maxila , Fotografia Dentária , Ultrassom , Fenótipo
5.
Front Pediatr ; 11: 1117493, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37441579

RESUMO

Pediatric obstructive sleep apnea (POSA) is a complex disease with multifactorial etiopathogenesis. The presence of craniofacial dysmorphisms influencing the patency of the upper airway is considered a risk factor for POSA development. The craniofacial features associated with sleep-related breathing disorders (SRBD) - craniosynostosis, retrognathia and micrognathia, midface and maxillary hypoplasia - have high heritability and, in a less severe form, could be also found in non-syndromic children suffering from POSA. As genetic factors play a role in both POSA and craniofacial dysmorphisms, we hypothesize that some genes associated with specific craniofacial features that are involved in the development of the orofacial area may be also considered candidate genes for POSA. The genetic background of POSA in children is less explored than in adults; so far, only one genome-wide association study for POSA has been conducted; however, children with craniofacial disorders were excluded from that study. In this narrative review, we discuss syndromes that are commonly associated with severe craniofacial dysmorphisms and a high prevalence of sleep-related breathing disorders (SRBD), including POSA. We also summarized information about their genetic background and based on this, proposed 30 candidate genes for POSA affecting craniofacial development that may play a role in children with syndromes, and identified seven of these genes that were previously associated with craniofacial features risky for POSA development in non-syndromic children. The evidence-based approach supports the proposition that variants of these candidate genes could lead to POSA phenotype even in these children, and, thus, should be considered in future research in the general pediatric population.

6.
Angle Orthod ; 93(5): 545-551, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-37145979

RESUMO

OBJECTIVES: To investigate the association between the width of keratinized gingiva (WKG), gingival phenotype (GP), and gingival thickness (GT) with craniofacial morphology in sagittal and vertical dimensions. MATERIALS AND METHODS: WKG, GP, and GT of mandibular anterior teeth in 177 preorthodontic patients (mean age 18.38 ± 5.16 years) were assessed clinically using a periodontal probe, a Colorvue Biotype Probe, and ultrasound by a single examiner. Patients were grouped into skeletal Class I, II, and III and hyperdivergent, normodivergent, and hypodivergent based on ANB and SN-MP angles. Mandibular incisor inclination (L1-NB) was also measured. Clinical and cephalometric measurements were repeated to assess inter- and intraexaminer reproducibility. RESULTS: A significant association was found between thin GP and skeletal Classes I and III for the left mandibular central incisor (MCI; P = .0183). In skeletal Class III patients, L1-NB angle demonstrated a decreasing trend as phenotype thickness decreased. A significant association was found between thin phenotype and normodivergent and hypodivergent groups for MCIs (left: P = .0009, right: P = .00253). No significant association between WKG or GT and craniofacial morphology was found. CONCLUSIONS: Thin GP is associated with skeletal Class I and III for the left MCI. Thin GP is associated with hypodivergent and normodivergent skeletal patterns for the MCIs. There was no association between WKG and GT and craniofacial morphology in both skeletal and vertical dimensions. Dental compensations that exist due to different craniofacial morphology may influence the GP.


Assuntos
Gengiva , Incisivo , Gengiva/diagnóstico por imagem , Incisivo/diagnóstico por imagem , Incisivo/anatomia & histologia , Reprodutibilidade dos Testes , Mandíbula/diagnóstico por imagem , Mandíbula/anatomia & histologia , Cefalometria
7.
Am J Orthod Dentofacial Orthop ; 163(3): 357-367.e3, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36503861

RESUMO

INTRODUCTION: Recent 3-dimensional technology advancements have resulted in new techniques to improve the accuracy of intraoperative transfer. This study aimed to validate the accuracy of computer-aided design and manufacturing (CAD-CAM) customized surgical cutting guides and fixation plates on mandibular repositioning surgery performed in isolation or combined with simultaneous maxillary repositioning surgery. METHODS: Sixty patients who underwent mandibular advancement surgery by the same surgeon were retrospectively evaluated by 3-dimensional surface-based superimposition. A 3-point coordinate system (x, y, z) was used to identify the linear and angular discrepancies between the planned movements and actual outcomes. Wilcoxon rank sum test was used to compare the outcomes between the mandible-only and the bimaxillary surgery groups with significance at P <0.05. Pearson correlation coefficient compared planned mandible advancement to the outcome from advancement planned. The centroid, which represents the mandible as a single unit, was computed from 3 landmarks, and the discrepancies were evaluated by the root mean square error (RMSE) for clinical significance set at 2 mm for linear discrepancies and 4° for angular discrepancies. RESULTS: There was no statistically significant difference between the planned and actual position of the mandible in either group when considering absolute values of the differences. When considering raw directional data, a statistically significant difference was identified in the y-axis suggesting a tendency for under-advancement of the mandible in the bimaxillary group. The largest translational RMSE for the centroid was 0.77 mm in the sagittal dimension for the bimaxillary surgery group. The largest rotational RMSE for the centroid was 1.25° in the transverse dimension for the bimaxillary surgery group. Our results show that the precision and clinical feasibility of CAD-CAM customized surgical cutting guides and fixation plates on mandibular repositioning surgery is well within clinically acceptable parameters. CONCLUSION: Mandibular repositioning surgery can be performed predictably and accurately with the aid of CAD-CAM customized surgical cutting guides and fixation plates with or without maxillary surgery.


Assuntos
Procedimentos Cirúrgicos Ortognáticos , Cirurgia Assistida por Computador , Humanos , Estudos Retrospectivos , Cirurgia Assistida por Computador/métodos , Imageamento Tridimensional , Procedimentos Cirúrgicos Ortognáticos/métodos , Desenho Assistido por Computador
8.
Am J Orthod Dentofacial Orthop ; 163(1): 117-125, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36549828

RESUMO

INTRODUCTION: Cephalometric superimpositions have many uses in orthodontics, including growth evaluation and outcome assessment. However, 2-dimensional (2D) cephalograms can be distorted and yield incomplete 2D data. Cone-beam computed tomography (CBCT) imaging provides a 3-dimensional (3D), undistorted, and more complete patient analysis. CBCT imaging provides many unique advantages to the orthodontic practice and can influence how treatment outcomes are assessed. This study aimed to investigate the validity of 3D maxillary voxel-based superimpositions compared with the 2D method recommended by the American Board of Orthodontists. METHODS: This retrospective study included pretreatment and posttreatment CBCT images of 30 adolescent patients. The images were superimposed using the 3D voxel-based tools in Dolphin Imaging software (Dolphin Imaging and Management Solutions, Chatsworth, Calif). Two different 3D anatomic registration areas (3DA-3DB) were tested for the validity and reproducibility of the 3D maxillary superimpositions as compared with the 2D method. Linear and angular measurements were used to evaluate the dental changes of the maxillary right central incisor and first molar. Data distribution was normal by the Shapiro-Wilk W test. A mixed model analysis of variance test was done to compare the 3 superimposition types within each subject, followed by pairwise Tukey-Kramer comparisons when indicated. RESULTS: After applying the Benjamini-Hochberg procedure to control the false discovery rate at 0.05 with multiple testing, the U1 vertical difference was statistically significant (P <0.0001) for the superimposition method, though the mean differences were clinically nonsignificant (0.52 mm, 0.76 mm). The U1 angular and U6 vertical differences were not statistically significant for the superimposition method (P = 0.3636 and P = 0.1863, respectively). CONCLUSIONS: The 3D voxel-based maxillary superimpositions showed similar results to conventional 2D superimpositions recommended by the American Board of Orthodontists.


Assuntos
Imageamento Tridimensional , Ortodontia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Imageamento Tridimensional/métodos , Maxila/diagnóstico por imagem , Tomografia Computadorizada de Feixe Cônico/métodos
9.
Prog Orthod ; 22(1): 23, 2021 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-34278529

RESUMO

BACKGROUND: The purpose of this study was to identify pretreatment factors associated with the stability of early class III treatment, since most orthodontists start the treatment with their uncertain hypotheses and/or predictions. Subjects consisted of 75 patients with a class III skeletal relationship (ANB < 2° and overjet < 0 mm) who had been consecutively treated with rapid maxillary expansion and facemask and followed until their second phase treatment. The patients were divided into two groups according to whether they showed relapse in follow-up. The stable group maintained their positive overjet (n = 55), and the unstable group experienced relapse with a zero or negative overjet (n = 20). Two general, three dental, and 13 cephalometric pretreatment factors were investigated to determine which factors were associated with stability. RESULTS: Sex, pretreatment age, and anteroposterior functional shift, which were hypothesized as associated factors, were not related to the stability of early class III treatment. Significant differences were detected between the two groups in the horizontal distance between the maxillary and mandibular molars in centric relation. Cephalometric variables, such as the mandibular length (Ar-Me), Wits appraisal, SN to ramus plane angle (SN-Rm), gonial angle, incisor mandibular plane angle (IMPA), and Frankfort plane to mandibular incisor angle (FMIA) showed significant differences between the groups. The horizontal distance was the most influential factor by logistic regression analysis. CONCLUSIONS: Hypothesis (related to sex, age, functional shift) were rejected. Several cephalometric factors related to the mandible were associated with stability. The horizontal distance between the maxillary and mandibular molars in centric relation was the best predictor of early class III treatment relapse.


Assuntos
Má Oclusão Classe III de Angle , Cefalometria , Aparelhos de Tração Extrabucal , Humanos , Má Oclusão Classe III de Angle/diagnóstico por imagem , Má Oclusão Classe III de Angle/terapia , Mandíbula , Maxila , Resultado do Tratamento
10.
Semin Orthod ; 23(4): 336-347, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29290679

RESUMO

Uncovering the genetic factors that correlate with a clinical deviation of previously unknown etiology helps to diminish the unknown variation influencing the phenotype. Clinical studies, particularly those that consider the effects of an appliance or treatment regimen on growth, need to be a part of these types of genetic investigations in the future. While the day-to-day utilization of "testing" for genetic factors is not ready for practice yet, genetic testing for monogenic traits such as Primary Failure of Eruption (PFE) and Class III malocclusion is showing more promise as knowledge and technology advances. Although the heterogeneous complexity of such things as facial and dental development, the physiology of tooth movement, and the occurrence of External Apical Root Resorption (EARR) make their precise prediction untenable, investigations into the genetic factors that influence different phenotypes, and how these factors may relate to or impact environmental factors (including orthodontic treatment) are becoming better understood. The most important "genetic test" the practitioner can do today is to gather the patient's individual and family history. This would greatly benefit the patient, and augment the usefulness of these families in future clinical research in which clinical findings, environmental, and genetic factors can be studied.

11.
Curr Osteoporos Rep ; 14(6): 292-309, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27766484

RESUMO

When orthodontic patients desire shorter treatment times with aesthetic results and long-term stability, it is important for the orthodontist to understand the potential limitations and problems that may arise during standard and/or technology-assisted accelerated treatment. Bone density plays an important role in facilitating orthodontic tooth movement (OTM), such that reductions in bone density can significantly increase movement velocity. Lifestyle, genetic background, environmental factors, and disease status all can influence a patients' overall health and bone density. In some individuals, these factors may create specific conditions that influence systemic-wide bone metabolism. Both genetic variation and the onset of a bone-related disease can influence systemic bone density and local bone density, such as observed in the mandible and maxilla. These types of localized density changes can affect the rate of OTM and may also influence the risk of unwanted outcomes, i.e., the occurrence of dental external apical root resorption (EARR).


Assuntos
Densidade Óssea/genética , Doenças Ósseas Metabólicas/epidemiologia , Reabsorção da Raiz/epidemiologia , Técnicas de Movimentação Dentária , Densidade Óssea/fisiologia , Doenças Ósseas Metabólicas/genética , Remodelação Óssea/genética , Remodelação Óssea/fisiologia , Humanos , Interleucina-1beta/genética , Mandíbula , Maxila , Osteoprotegerina/genética , Receptores Purinérgicos P2X7/genética , Reabsorção da Raiz/genética
12.
Periodontol 2000 ; 72(1): 54-75, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27501491

RESUMO

The increased prevalence and severity of periodontal disease have long been associated with aging, such that this oral condition affects the majority of the adult population over 50 years of age. Although the immune system is a critical component for maintaining health, aging can be characterized by quantitative and qualitative modifications of the immune system. This process, termed 'immunosenescence', is a progressive modification of the immune system that leads to greater susceptibility to infections, neoplasia and autoimmunity, presumably reflecting the prolonged antigenic stimulation and/or stress responses that occur across the lifespan. Interestingly, the global reduction in the host capability to respond effectively to these challenges is coupled with a progressive increase in the general proinflammatory status, termed 'inflammaging'. Consistent with the definition of immunosenescence, it has been suggested that the cumulative effect of prolonged exposure of the periodontium to microbial challenge is, at least in part, a contributor to the effects of aging on these tissues. Thus, it has also been hypothesized that alterations in the function of resident immune and nonimmune cells of the periodontium contribute to the expression of inflammaging in periodontal disease. Although the majority of aging research has focused on the adaptive immune response, it is becoming increasingly clear that the innate immune compartment is also highly affected by aging. Thus, the phenomenon of immunosenescence and inflammaging, expressed as age-associated changes within the periodontium, needs to be more fully understood in this era of precision and personalized medicine and dentistry.


Assuntos
Envelhecimento/imunologia , Inflamação/imunologia , Doenças Periodontais/imunologia , Imunidade Adaptativa/imunologia , Envelhecimento/fisiologia , Doenças Autoimunes/complicações , Doenças Autoimunes/imunologia , Autoimunidade/imunologia , Citocinas/genética , Citocinas/imunologia , Suscetibilidade a Doenças/imunologia , Epigenômica , Humanos , Sistema Imunitário , Imunidade Inata/genética , Imunidade Inata/imunologia , Imunossenescência/fisiologia , Neoplasias/complicações , Neoplasias/imunologia , Periodonto/imunologia , Periodonto/microbiologia , Polimorfismo Genético
13.
J Clin Sleep Med ; 10(4): 397-402, 2014 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-24733985

RESUMO

STUDY OBJECTIVES: This case-control study investigated whether variations within the APOE-ε gene were associated with having a convex facial profile (skeletal Class II) compared to exhibiting a straight or concave facial profile (Class I or Class III) among patients with obstructive sleep apnea (OSA). Associations between the apnea-hypopnea index (AHI) and body mass index (BMI) scores for these OSA patients were also examined in the context of facial profile. METHOD: OSA patients with an AHI ≥ 15 were recruited from a sleep clinic and classified by facial and dental occlusal relationships based on a profile facial analysis, lateral photographs, and dental examination. Saliva was collected as a source of DNA. The APOE-ε1-4 allele-defining single nucleotide polymorphisms (SNPs) rs429358 and rs7412 were genotyped. A χ(2) analysis was used to assess Hardy-Weinberg equilibrium and for association analysis (significance at p < 0.05). ANOVA and Fisher exact test were also used. RESULT: Seventy-six Caucasian OSA patients participated in the study-25 Class II cases and 51 non-Class II cases. There was no association of the APOE-ε4 allele with facial profile among these OSA patients. Class II OSA patients had significantly lower BMIs (30.7 ± 5.78) than Class I (37.3 ± 6.14) or Class III (37.8 ± 6.17) patients (p < 0.001), although there was no statistical difference in AHI for Class II patients compared with other groups. CONCLUSION: OSA patients with Class II convex profile were more likely to have a lower BMI than those in other skeletal groups. In fact 20% of them were not obese, suggesting that a Class II convex profile may influence or be associated with OSA development independent of BMI.


Assuntos
Apolipoproteína E4/genética , Índice de Massa Corporal , Ossos Faciais/patologia , Síndromes da Apneia do Sono/genética , Apneia Obstrutiva do Sono/genética , Alelos , Estudos de Casos e Controles , Genótipo , Humanos , Masculino , Má Oclusão/complicações , Má Oclusão/patologia , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Síndromes da Apneia do Sono/etiologia , Síndromes da Apneia do Sono/patologia , Apneia Obstrutiva do Sono/etiologia , Apneia Obstrutiva do Sono/patologia
14.
Am J Med Genet A ; 161A(9): 2266-73, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23894113

RESUMO

Townes-Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes-Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes-Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes-Brocks syndrome.


Assuntos
Anormalidades Múltiplas/fisiopatologia , Anus Imperfurado/fisiopatologia , Sistema Endócrino/fisiopatologia , Perda Auditiva Neurossensorial/fisiopatologia , Polegar/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anus Imperfurado/diagnóstico , Anus Imperfurado/genética , Pré-Escolar , Sistema Endócrino/metabolismo , Fácies , Feminino , Estudos de Associação Genética , Genótipo , Gráficos de Crescimento , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Linhagem , Fenótipo , Hipófise/patologia , Polegar/fisiopatologia , Fatores de Transcrição/genética
15.
J Orthod ; 40(1): 47-52, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23524547

RESUMO

Trichorhinophalangeal syndrome type I is a rare autosomal dominant disorder characterized by cone-shaped epiphysis, sparse fine hair, pear-shaped nose and variable growth retardation. The typical craniofacial features include thin upper lip, elongated philtrum, large outstanding ears, shortened posterior facial height associated with short mandibular ramus and reduced and superiorly deflected posterior cranial base. This report describes a 17-year-old male patient with trichorhinophalangeal syndrome type I and a detailed description of the craniofacial radiographic findings, including the use of cone beam computed tomography images for determination of the airway and temporomandibular joint discrepancies.


Assuntos
Tomografia Computadorizada de Feixe Cônico , Doenças do Cabelo/diagnóstico por imagem , Síndrome de Langer-Giedion/diagnóstico por imagem , Adolescente , Obstrução das Vias Respiratórias/diagnóstico por imagem , Cefalometria/métodos , Ossos Faciais/anormalidades , Ossos Faciais/diagnóstico por imagem , Dedos/anormalidades , Dedos/diagnóstico por imagem , Humanos , Masculino , Nariz/anormalidades , Nariz/diagnóstico por imagem , Transtornos da Articulação Temporomandibular/diagnóstico por imagem
16.
Open J Immunol ; 3(3)2013 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-24386612

RESUMO

Bacterial adherence to the acquired dental pellicle, important in dental caries (caries), is mediated by receptor-adhesins such as salivary agglutinin binding to Streptococcus mutans antigen I/II (I/II). Ten selected I/II epitopes were chosen to determine their reactivity to human salivary IgA. Previous studies suggested that a specific HLA biomarker group (HLA-DRB1*04) may have differential influence of immune responses to I/II. However, it was not known whether secretory IgA (SIgA) responses to the selected epitopes from HLA-DRB1*04 positive subjects were different compared to controls, or across other caries-related factors such as total IgA (TIgA). Thirty-two total subjects were matched according to HLA type, gender, ethnicity and age. HLA genotyping, oral bacterial, immunoglobulin and antibody analyses were performed. A large observed difference emerged with regard to the natural immune reservoir of TIgA in HLA-DRB1*04 positive subjects, specifically, a 27.6% reduction compared to controls. In contrast to all other epitopes studied, HLA-DRB1*04 positive subjects also exhibited reduced reactivity to I/II epitope 834-853. HLA-DRB1*04 positive subjects exhibited lower specific SIgA activity/TIgA to 834-853 and also a lower specific reactivity to 834-853/whole cell S. mutans UA159. Furthermore, HLA-DRB1*04 positive subjects exhibited lower responses to I/II in its entirety. The large observed difference in TIgA and the 834-853 reactivity pattern across multiple measures suggest potentially important connections pertaining to the link between HLA-DRB1*04 and caries.

17.
J Pediatr Genet ; 2(1): 9-20, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27625834

RESUMO

Just as pediatricians and endocrinologists are interested in understanding statural growth patterns and the prediction of adult height, pediatric dentists, orthodontists, and oral/maxillofacial surgeons need to be knowledgeable about a patient's facial growth patterns to effectively treat them. Some variations in facial growth have been clinically associated with a poor esthetic self-image, malocclusion formation and the development of physical and/or functional deformity. To understand how different genetic factors influence growth and development patterns, scientists and clinicians study developmental sequences, malformations and syndromes. While understanding this general information can be clinically valuable when making treatment decisions for an individual and their family, the greatest contribution of genetics in clinical practice may be in the form of personalized or "precision" medicine in the general population. Precision medicine takes into account knowing a portion or all of a patient's specific DNA code to estimate how their genetic makeup will influence growth and development patterns. Ultimately, the identification of key genetic variations at the level of the individual patient can improve growth predictions for that patient and may be indicative of how well they will respond to specific forms of treatment.

18.
Am J Orthod Dentofacial Orthop ; 142(5): 662-70, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23116507

RESUMO

INTRODUCTION: Sagittal jaw growth is influenced during puberty by a ratio of androgens and estrogens. The CYP19A1 (formerly CYP19) gene encodes the cytochrome P450 enzyme aromatase (estrogen synthetase), which converts testosterone to estrogen. Genetic variations including single nucleotide polymorphisms might regulate CYP19A1 gene expression or the function of the aromatase protein and thus influence sagittal jaw growth. METHODS: The annual sagittal jaw growth in 92 pubertal orthodontic patients was determined by using pretreatment and posttreatment cephalometric radiographs. Single nucleotide polymorphisms rs2470144 and rs2445761 were genotyped and haplotypes constructed. Associations between genotypes or haplotypes and the annual sagittal growth were estimated by using JMP (version 9.0; SAS Institute, Cary, NC). RESULTS: Two single nucleotide polymorphisms were significantly associated with average differences in annual sagittal jaw growth in boys. Haplotype analysis demonstrated that haplotypes T(rs2470144)T(rs2445761) and C(rs2470144)T(rs2445761) had significant effects on annual sagittal maxillary growth and on mandibular growth in boys. No association was found in girls. CONCLUSIONS: A quantitative trait locus that influences male pubertal sagittal jaw growth might exist in the CYP19A1 gene, and single nucleotide polymorphisms rs2470144 and rs2445761 might be inside this quantitative trait locus or be linked to it.


Assuntos
Aromatase/genética , Mandíbula/crescimento & desenvolvimento , Maxila/crescimento & desenvolvimento , Desenvolvimento Maxilofacial/genética , Povo Asiático/genética , Cefalometria , Criança , China , Feminino , Frequência do Gene , Haplótipos , Humanos , Análise dos Mínimos Quadrados , Modelos Lineares , Desequilíbrio de Ligação , Masculino , Mandíbula/anatomia & histologia , Maxila/anatomia & histologia , Polimorfismo de Nucleotídeo Único , Reprodutibilidade dos Testes , Fatores Sexuais
19.
Am J Orthod Dentofacial Orthop ; 140(4): 520-6, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21967939

RESUMO

INTRODUCTION: Little research has been conducted to evaluate protocols and trends in orthodontic retention. The purpose of this study was to identify the general retention protocols used by orthodontists in the United States. Additionally, our goal was to identify trends in these orthodontic retention protocols by evaluating how they have changed over the past 5 years and how they might continue to change in the next 5 years. METHODS: The study was conducted via a 36-question electronic survey (REDCap, Nashville, Tenn) with branching logic on certain questions. The survey was sent to all 9143 practicing members of the American Association of Orthodontists in the United States, and 1632 (18%) responded. RESULTS AND CONCLUSIONS: Mean retention protocols of the surveyed population showed predominant use of Hawley or vacuum-formed retainers in the maxillary arch and fixed retention in the mandibular arch. For both arches, there is a current shift away from Hawley retainers and toward vacuum-formed retainers and fixed retention. Respondents who extract fewer teeth reported increased use of fixed retention in the maxillary (P = 0.041) and mandibular (P = 0.003) arches. Respondents who extract fewer teeth and use removable retainers were more likely to tell their patients to wear their retainers at night for the rest of their lives (P = 1.63 × 10(-6)).


Assuntos
Contenções Ortodônticas/estatística & dados numéricos , Ortodontia/estatística & dados numéricos , Padrões de Prática Odontológica/estatística & dados numéricos , Protocolos Clínicos , Arco Dental , Feminino , Humanos , Internet , Masculino , Mandíbula , Maxila , Desenho de Aparelho Ortodôntico/estatística & dados numéricos , Desenho de Aparelho Ortodôntico/tendências , Contenções Ortodônticas/classificação , Contenções Ortodônticas/tendências , Ortodontia/tendências , Cooperação do Paciente , Padrões de Prática Odontológica/tendências , Sociedades Odontológicas , Inquéritos e Questionários , Estados Unidos
20.
Am J Orthod Dentofacial Orthop ; 140(4): 510-9, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21967938

RESUMO

INTRODUCTION: The aim of this study was to determine whether the orthopedic forces of rapid maxillary expansion cause significant quantitative changes in the cranial and the circummaxillary sutures. METHODS: Twenty patients (mean age, 12.3 ± 1.9 years) who required rapid maxillary expansion as a part of their comprehensive orthodontic treatment had preexpansion and postexpansion computed tomography scans. Ten cranial and circummaxillary sutures were located and measured on one of the axial, coronal, or sagittal sections of each patient's preexpansion and postexpansion computed tomography scans. Quantitative variables between the 2 measurements were compared by using the Wilcoxon signed rank test. A P value less than 0.05 was considered statistically significant. RESULTS: Rapid maxillary expansion produced significant width increases in the intermaxillary, internasal, maxillonasal, frontomaxillary, and frontonasal sutures, whereas the frontozygomatic, zygomaticomaxillary, zygomaticotemporal, and pterygomaxillary sutures showed nonsignificant changes. The greatest increase in width was recorded for the intermaxillary suture (1.7 ± 0.9 mm), followed by the internasal suture (0.6 ± 0.3 mm), and the maxillonasal suture (0.4 ± 0.2 mm). The midpalatal suture showed the greatest increase in width at the central incisor level (1.6 ± 0.8 mm) followed by the increases in width at the canine level (1.5 ± 0.8 mm) and the first molar level (1.2 ± 0.6 mm). CONCLUSIONS: Forces elicited by rapid maxillary expansion affect primarily the anterior sutures (intermaxillary and maxillary frontal nasal interfaces) compared with the posterior (zygomatic interface) craniofacial structures.


Assuntos
Suturas Cranianas/diagnóstico por imagem , Maxila/diagnóstico por imagem , Técnica de Expansão Palatina , Adolescente , Cefalometria/métodos , Criança , Dente Canino/diagnóstico por imagem , Arco Dental/diagnóstico por imagem , Osso Frontal/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/métodos , Incisivo/diagnóstico por imagem , Dente Molar/diagnóstico por imagem , Osso Nasal/diagnóstico por imagem , Desenho de Aparelho Ortodôntico , Técnica de Expansão Palatina/instrumentação , Palato/diagnóstico por imagem , Estudos Prospectivos , Osso Esfenoide/diagnóstico por imagem , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada Espiral/métodos , Zigoma/diagnóstico por imagem
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