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1.
Cancers (Basel) ; 14(16)2022 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-36010912

RESUMO

Tumour molecular annotation is mandatory for biomarker discovery and personalised approaches, particularly in triple-negative breast cancer (TNBC) lacking effective treatment options. In this study, the interleukin-3 receptor α (IL-3Rα) was investigated as a prognostic biomarker and therapeutic target in TNBC. IL-3Rα expression and patients' clinical and pathological features were retrospectively analysed in 421 TNBC patients. IL-3Rα was expressed in 69% human TNBC samples, and its expression was associated with nodal metastases (p = 0.026) and poor overall survival (hazard ratio = 1.50; 95% CI = 1.01-2.2; p = 0.04). The bioinformatics analysis on the Breast Invasive Carcinoma dataset of The Cancer Genome Atlas (TCGA) proved that IL-3Rα was highly expressed in TNBC compared with luminal breast cancers (p = 0.017, padj = 0.026). Functional studies demonstrated that IL-3Rα activation induced epithelial-to-endothelial and epithelial-to-mesenchymal transition, promoted large blood lacunae and lung metastasis formation, and increased programmed-cell death ligand-1 (PD-L1) in primary tumours and metastases. Based on the TCGA data, IL-3Rα, PD-L1, and EMT coding genes were proposed to discriminate against TNBC aggressiveness (AUC = 0.86 95% CI = 0.82-0.89). Overall, this study identified IL-3Rα as an additional novel biomarker of TNBC aggressiveness and provided the rationale to further investigate its relevance as a therapeutic target.

2.
Nat Commun ; 13(1): 2408, 2022 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-35504910

RESUMO

We performed a multi-ethnic Epigenome Wide Association study on 22,774 individuals to describe the DNA methylation signature of chronic low-grade inflammation as measured by C-Reactive protein (CRP). We find 1,511 independent differentially methylated loci associated with CRP. These CpG sites show correlation structures across chromosomes, and are primarily situated in euchromatin, depleted in CpG islands. These genomic loci are predominantly situated in transcription factor binding sites and genomic enhancer regions. Mendelian randomization analysis suggests altered CpG methylation is a consequence of increased blood CRP levels. Mediation analysis reveals obesity and smoking as important underlying driving factors for changed CpG methylation. Finally, we find that an activated CpG signature significantly increases the risk for cardiometabolic diseases and COPD.


Assuntos
Metilação de DNA , Inflamação , Proteína C-Reativa/genética , Ilhas de CpG/genética , Metilação de DNA/genética , Humanos , Inflamação/genética , Motivos de Nucleotídeos
3.
Curr Drug Deliv ; 2022 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-35598244

RESUMO

BACKGROUND: Different oral appliances (OAs) have been proposed to control sleep bruxism (SB) detrimental effects on the stomatognathic system. OBJECTIVE: The aim of the study was evaluate the effect of different OAs on SB activity and masticatory muscle activity (sMMA) measured by EMG. METHOD: This longitudinal cohort study was conducted on 51 patients (21 M, 30 F, mean age 26,5 ± 3,5) suffering from SB diagnosed with a validated portable EMG-ECG holter and wearing different OAs: occlusal splints, functional appliance with metallic bites and clear aligners followed after 1 week, 1 month, 3 months, 6 months and 12 months from delivery. A control group of 16 non-treated SB patients (6 M, 10 F mean age 27,1 ± 1,4) was used as reference. A multiple regression analysis was performed to estimate the differences between groups. Significance was set as P value <0,05. RESULTS: Occlusal splint reduced sleep bruxism index after 1 week, 3, 6 and 12 months from delivery while functional appliance only after 12 months. Occlusal splints reduced general phasic contractions only in the first week and sleep bruxism-related phasic contractions at 1 week, 3 and 6 months after delivery with no significant reductions after 12 months. Patients wearing clear aligners showed reduction in general tonic contractions after 6 and 12 months. CONCLUSION: Resin and metal bites can reduce sleep bruxism index, while resin bites can reduce sleep bruxism-related phasic contractions. Clear aligners do not influence sleep bruxism index but can reduce tonic contractions.

4.
J Sports Med Phys Fitness ; 62(3): 375-381, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33871235

RESUMO

BACKGROUND: Several studies have been proposed with the aim to demonstrate correlations between the dento-mandibular apparatus and the skeletal muscle system of the human body even in regions distant from the oral cavity. However, a definite conclusion cannot be drawn. The aim of this paper is to demonstrate a possible correlation between dental occlusion and sport performances in track and field athletes. METHODS: Sixteen track and field athletes were enrolled for the study and were randomly divided in three groups: Untreated control group, Placebo group (with a lower plaque without occlusal coverage) and Treated group (with occlusal splint). Changes in sprint and jump performance were assessed on a weekly basis for 5 consecutive weeks, during which athletes had to wear oral devices, except for the first week of baseline, for at least 3 trainings lasting 2 hours per week . All participants performed the countermovement jump (CMJ), the drop jump (DJ), the 10m and 30m sprint tests, always on the same day on the week. RESULTS: No statistically significant difference resulted between Control group and Placebo group and between Control group and Treated group. However, it was possible to observe a clinical improvement of measurements obtained, especially for CMJ, 10m and 30m sprint tests. No variation neither statistical neither clinical was observed in DJ test analysis. CONCLUSIONS: Even if statistically it was not possible to demonstrate an improvement in sport performance, most of the athlete analyzed showed better results during training session with occlusal splint compared to athlete without occlusal splint, in countermovement jump, in 10m and 30m sprint tests.


Assuntos
Desempenho Atlético , Atletismo , Atletas , Humanos , Força Muscular , Placas Oclusais
5.
Nat Genet ; 53(9): 1311-1321, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34493871

RESUMO

Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantitative trait locus (mQTL) analyses on 32,851 participants, identifying genetic variants associated with DNAm at 420,509 DNAm sites in blood. We present a database of >270,000 independent mQTLs, of which 8.5% comprise long-range (trans) associations. Identified mQTL associations explain 15-17% of the additive genetic variance of DNAm. We show that the genetic architecture of DNAm levels is highly polygenic. Using shared genetic control between distal DNAm sites, we constructed networks, identifying 405 discrete genomic communities enriched for genomic annotations and complex traits. Shared genetic variants are associated with both DNAm levels and complex diseases, but only in a minority of cases do these associations reflect causal relationships from DNAm to trait or vice versa, indicating a more complex genotype-phenotype map than previously anticipated.


Assuntos
Metilação de DNA/genética , DNA/metabolismo , Regulação da Expressão Gênica/genética , Predisposição Genética para Doença/genética , Locos de Características Quantitativas/genética , Mapeamento Cromossômico , Epigênese Genética/genética , Estudo de Associação Genômica Ampla , Humanos , Herança Multifatorial/genética , Polimorfismo de Nucleotídeo Único/genética , Característica Quantitativa Herdável , Transcriptoma/genética
6.
Cancers (Basel) ; 13(11)2021 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-34071989

RESUMO

Malignant pleural mesothelioma (MPM) is a rare and aggressive neoplasm. Patients are usually diagnosed when current treatments have limited benefits, highlighting the need for noninvasive tests aimed at an MPM risk assessment tool that might improve life expectancy. Three hundred asbestos-exposed subjects (163 MPM cases and 137 cancer-free controls), from the same geographical region in Italy, were recruited. The evaluation of asbestos exposure was conducted considering the frequency, the duration and the intensity of occupational, environmental and domestic exposure. A genome-wide methylation array was performed to identify novel blood DNA methylation (DNAm) markers of MPM. Multiple regression analyses adjusting for potential confounding factors and interaction between asbestos exposure and DNAm on the MPM odds ratio were applied. Epigenome-wide analysis (EWAS) revealed 12 single-CpGs associated with the disease. Two of these showed high statistical power (99%) and effect size (>0.05) after false discovery rate (FDR) multiple comparison corrections: (i) cg03546163 in FKBP5, significantly hypomethylated in cases (Mean Difference in beta values (MD) = -0.09, 95% CI = -0.12|-0.06, p = 1.2 × 10-7), and (ii) cg06633438 in MLLT1, statistically hypermethylated in cases (MD = 0.07, 95% CI = 0.04|0.10, p = 1.0 × 10-6). Based on the interaction analysis, asbestos exposure and epigenetic profile together may improve MPM risk assessment. Above-median asbestos exposure and hypomethylation of cg03546163 in FKBP5 (OR = 20.84, 95% CI = 8.71|53.96, p = 5.5 × 10-11) and hypermethylation of cg06633438 in MLLT1 (OR = 11.71, 95% CI = 4.97|29.64, p = 5.9 × 10-8) genes compared to below-median asbestos exposure and hyper/hypomethylation of single-CpG DNAm, respectively. Receiver Operation Characteristics (ROC) for Case-Control Discrimination showed a significant increase in MPM discrimination when DNAm information was added in the model (baseline model, BM: asbestos exposure, age, gender and white blood cells); area under the curve, AUC = 0.75; BM + cg03546163 at FKBP5. AUC = 0.89, 2.1 × 10-7; BM + cg06633438 at MLLT1. AUC = 0.89, 6.3 × 10-8. Validation and replication procedures, considering independent sample size and a different DNAm analysis technique, confirmed the observed associations. Our results suggest the potential application of DNAm profiles in blood to develop noninvasive tests for MPM risk assessment in asbestos-exposed subjects.

7.
Angle Orthod ; 91(3): 343-348, 2021 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-33476365

RESUMO

OBJECTIVES: To measure the thickness homogeneity of Invisalign (Align Technology Inc, San José, Calif) aligners with micro-computed tomography (micro-CT) scans. MATERIALS AND METHODS: Starting from micro-CT scanning of 20 different aligners, multiplanar reconstructions were obtained. An orthodontist blinded about the study measured aligner thickness in different regions (molar, canine, incisor) and in different sites (gingival-buccal, buccal, occlusal, lingual, and gingival-lingual). To assess various thicknesses in different aligner sites and regions, the sample was stratified into subgroups and linear regression analysis was performed. RESULTS: Descriptive analysis showed that mean thickness of aligners in the incisor region ranged from 0.582 mm to 0.639 mm, in the canine region from 0.569 mm to 0.644 mm, and in the molar region from 0.566 mm to 0.634 mm. Student's t-tests showed no significant differences in the aligner thickness of different regions when data were stratified by different sites. Student's t-tests showed significant differences in thickness homogeneity for the molar region when the data were stratified by tooth (mean difference = 0.068 mm; 95% confidence interval, 0.009-0.126 mm; P = .024). CONCLUSIONS: Invisalign aligner thickness is characterized by small differences. The only significant difference was revealed in the molar region where thickness of the gingival-lingual edge is significantly thinner than that measured at the occlusal aspect. From a clinical perspective, the results of the present study could be considered to explain the reduced predictability of several orthodontic tooth movements in the molar region.


Assuntos
Aparelhos Ortodônticos Removíveis , Humanos , Incisivo/diagnóstico por imagem , Dente Molar , Técnicas de Movimentação Dentária , Microtomografia por Raio-X
8.
Hum Mutat ; 42(3): 272-289, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33326653

RESUMO

To reconstruct the phenotypical and clinical implications of the Italian genetic structure, we thoroughly analyzed a whole-exome sequencing data set comprised of 1686 healthy Italian individuals. We found six previously unreported variants with remarkable frequency differences between Northern and Southern Italy in the HERC2, OR52R1, ADH1B, and THBS4 genes. We reported 36 clinically relevant variants (submitted as pathogenic, risk factors, or drug response in ClinVar) with significant frequency differences between Italy and Europe. We then explored putatively pathogenic variants in the Italian exome. On average, our Italian individuals carried 16.6 protein-truncating variants (PTVs), with 2.5% of the population having a PTV in one of the 59 American College of Medical Genetics (ACMG) actionable genes. Lastly, we looked for PTVs that are likely to cause Mendelian diseases. We found four heterozygous PTVs in haploinsufficient genes (KAT6A, PTCH1, and STXBP1) and three homozygous PTVs in genes causing recessive diseases (DPYD, FLG, and PYGM). Comparing frequencies from our data set to other public databases, like gnomAD, we showed the importance of population-specific databases for a more accurate assessment of variant pathogenicity. For this reason, we made aggregated frequencies from our data set publicly available as a tool for both clinicians and researchers (http://nigdb.cineca.it; NIG-ExIT).


Assuntos
Exoma , Variação Genética , Europa (Continente) , Exoma/genética , Humanos , Itália , Sequenciamento Completo do Exoma
9.
Cancers (Basel) ; 12(11)2020 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-33233407

RESUMO

Malignant pleural mesothelioma (MPM) is an aggressive tumor with median survival of 12 months and limited effective treatments. The scope of this study was to study the relationship between blood DNA methylation (DNAm) and overall survival (OS) aiming at a noninvasive prognostic test. We investigated a cohort of 159 incident asbestos exposed MPM cases enrolled in an Italian area with high incidence of mesothelioma. Considering 12 months as a cut-off for OS, epigenome-wide association study (EWAS) revealed statistically significant (p value = 7.7 × 10-9) OS-related differential methylation of a single-CpG (cg03546163), located in the 5'UTR region of the FKBP5 gene. This is an independent marker of prognosis in MPM patients with a better performance than traditional inflammation-based scores such as lymphocyte-to-monocyte ratio (LMR). Cases with DNAm < 0.45 at the cg03546163 had significantly poor survival compared with those showing DNAm ≥ 0.45 (mean: 243 versus 534 days; p value< 0.001). Epigenetic changes at the FKBP5 gene were robustly associated with OS in MPM cases. Our results showed that blood DNA methylation levels could be promising and dynamic prognostic biomarkers in MPM.

10.
Int J Cancer ; 146(2): 363-372, 2020 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-31209889

RESUMO

Interindividual differences in DNA repair systems may play a role in modulating the individual risk of developing colorectal cancer. To better ascertain the role of DNA repair gene polymorphisms on colon and rectal cancer risk individually, we evaluated 15,419 single nucleotide polymorphisms (SNPs) within 185 DNA repair genes using GWAS data from the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), which included 8,178 colon cancer, 2,936 rectum cancer cases and 14,659 controls. Rs1800734 (in MLH1 gene) was associated with colon cancer risk (p-value = 3.5 × 10-6 ) and rs2189517 (in RAD51B) with rectal cancer risk (p-value = 5.7 × 10-6 ). The results had statistical significance close to the Bonferroni corrected p-value of 5.8 × 10-6 . Ninety-four SNPs were significantly associated with colorectal cancer risk after Binomial Sequential Goodness of Fit (BSGoF) procedure and confirmed the relevance of DNA mismatch repair (MMR) and homologous recombination pathways for colon and rectum cancer, respectively. Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer. Other SNPs associated with the risk of colon cancer (e.g., rs16906252 in MGMT) were found to affect mRNA expression levels in colon transverse and therefore working as possible cis-eQTL suggesting possible mechanisms of carcinogenesis.


Assuntos
Neoplasias do Colo/genética , Reparo do DNA/genética , Predisposição Genética para Doença , Neoplasias Retais/genética , Adulto , Idoso , Variação Biológica da População/genética , Carcinogênese/genética , Estudos de Casos e Controles , Colo/patologia , Neoplasias do Colo/patologia , Metilases de Modificação do DNA/genética , Enzimas Reparadoras do DNA/genética , Proteínas de Ligação a DNA/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Retais/patologia , Reto/patologia , Sistema de Registros/estatística & dados numéricos , Medição de Risco , Proteínas Supressoras de Tumor/genética , Adulto Jovem
11.
Cranio ; 38(4): 264-272, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30215301

RESUMO

OBJECTIVE: The aim of this study was to evaluate the effect of an occlusal splint on body posture of intra-articular temporomandibular joint (TMJ) disorders patients. METHODS: The study was performed on 45 women affected by TMJ disorders divided into an occlusal splint group and a control group. Rasterstereographic recordings were performed at baseline and after 1, 3, and 6 months, in order to analyze the following postural parameters: trunk inclination, cervical and lumbar arrows, kyphotic and lordotic angles, trunk imbalance, pelvic tilt and torsion. RESULTS: Regarding the postural parameters in the intragroup analysis, no significant differences were detected. The analysis between the two groups revealed significant differences concerning the cervical arrow, the kyphotic and lordotic angles. DISCUSSION: Even if some differences were found between the control and the occlusal splint group, the low range of statistical significance made these results not significant from a clinical point of view.


Assuntos
Lordose , Transtornos da Articulação Temporomandibular , Feminino , Humanos , Placas Oclusais , Postura
12.
J Orofac Orthop ; 80(2): 79-87, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30673806

RESUMO

PURPOSE: The aims of the study were (1) to evaluate the fitting of three different aligners (Invisalign [Align Technology, Santa Clara, CA, USA], CA Clear Aligner [Scheu-Dental, Iserlohn, Germany] and F22 [Sweden&Martina, Due Carrare, Italy]) on anchorage attachments using scanning electron microscopy (SEM), and (2) to analyze the influence of 2 different types of resin used to build attachments on aligner fitting. METHODS: Using STL files of a patient, six resin casts were obtained and rectangular attachments were bonded on them. Conventional bulk-fill resin was used to build upper attachments while a flowable resin was used to build the lower ones. Passive aligners were adapted on each cast and then sectioned buccolingually. Microphotographs of the obtained sections were performed using a SEM and then micrometric measurements of aligner fitting on anchorage attachments were recorded. RESULTS: Analyzing the overall fitting of upper arch aligners, Invisalign provided a significantly better fitting with respect to F22 (P = 0.009); differences were not significant when comparing Invisalign with CA Clear Aligner, and CA Clear Aligner with F22. Analyzing the overall fitting of lower arch aligners, F22 provided a significantly better fitting with respect to CA Clear Aligner (P = 0.008) and Invisalign (P = 0.011). The analysis showed a significantly better fitting on upper attachments, built using conventional bulk-fill resin (P = 0.034). CONCLUSIONS: Invisalign, CA Clear Aligner and F22 have comparable performance in terms of fitting on anchorage attachments. Conventional bulk-fill resin provides the best fitting on anchorage attachments.


Assuntos
Procedimentos de Ancoragem Ortodôntica , Aparelhos Ortodônticos Removíveis , Técnica de Fundição Odontológica , Humanos , Má Oclusão Classe I de Angle/terapia , Microscopia Eletrônica de Varredura , Resinas Sintéticas/uso terapêutico , Técnicas de Movimentação Dentária/instrumentação , Técnicas de Movimentação Dentária/métodos
13.
J Thorac Oncol ; 14(3): 527-539, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30408567

RESUMO

INTRODUCTION: Malignant pleural mesothelioma (MPM) is an aggressive tumor strongly associated with asbestos exposure. Patients are usually diagnosed when current treatments have limited benefits, highlighting the need for noninvasive early diagnostic tests to monitor asbestos-exposed people. METHODS: We used a genome-wide methylation array to identify, in asbestos-exposed subjects, novel blood DNA methylation markers of MPM in 163 MPM cases and 137 cancer-free controls (82 MPM cases and 68 controls, training set; replication in 81 MPM cases and 69 controls, test set) sampled from the same areas. RESULTS: Evidence of differential methylation between MPM cases and controls was found (more than 800 cytosine-guanine dinucleotide sites, false discovery rate p value (pfdr) < 0.05), mainly in immune system-related genes. Considering the top differentially methylated signals, seven single- cytosine-guanine dinucleotides and five genomic regions of coordinated methylation replicated with similar effect size in the test set (pfdr < 0.05). The top hypomethylated single-CpG (cases versus controls effect size less than -0.15, pfdr < 0.05 in both the training and test sets) was detected in FOXK1 (Forkhead-box K1) gene, an interactor of BAP1 which was found mutated in MPM tissue and as germline mutation in familial MPM. In the test set, comparison of receiver operating characteristic curves and the area under the curve (AUC) of two models, including or excluding methylation, showed a significant increase in case/control discrimination when considering DNA methylation together with asbestos exposure (AUC = 0.81 versus AUC = 0.89, DeLong's test p = 0.0013). CONCLUSIONS: We identified signatures of differential methylation in DNA from whole blood between asbestos exposed MPM cases and controls. Our results provide the rationale to further investigate, in prospective studies, the potential use of blood DNA methylation profiles for the identification of early changes related to the MPM carcinogenic process.


Assuntos
Amianto/efeitos adversos , Biomarcadores Tumorais/genética , Metilação de DNA , DNA/sangue , Neoplasias Pulmonares/diagnóstico , Mesotelioma/diagnóstico , Exposição Ocupacional/efeitos adversos , Neoplasias Pleurais/diagnóstico , Idoso , Biomarcadores Tumorais/sangue , Carcinógenos/toxicidade , Estudos de Casos e Controles , DNA/química , DNA/genética , Feminino , Seguimentos , Humanos , Neoplasias Pulmonares/sangue , Neoplasias Pulmonares/etiologia , Neoplasias Pulmonares/patologia , Masculino , Mesotelioma/sangue , Mesotelioma/etiologia , Mesotelioma/patologia , Mesotelioma Maligno , Neoplasias Pleurais/sangue , Neoplasias Pleurais/etiologia , Neoplasias Pleurais/patologia , Prognóstico , Curva ROC
14.
EBioMedicine ; 38: 206-216, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30442561

RESUMO

BACKGROUND: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health. METHODS: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n = 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult smoking. DNA methylation levels were analysed in relation to body mass index (BMI), waist circumference (WC), fasting glucose (FG), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), diastolic, and systolic blood pressure (BP). FINDINGS: Lower DNA methylation at three out of eight GFI1-CpGs was associated with exposure to maternal prenatal smoking, whereas, all eight CpGs were associated with adult own smoking. Lower DNA methylation at cg14179389, the strongest maternal prenatal smoking locus, was associated with increased WC and BP when adjusted for sex, age, and adult smoking with Bonferroni-corrected P < 0·012. In contrast, lower DNA methylation at cg09935388, the strongest adult own smoking locus, was associated with decreased BMI, WC, and BP (adjusted 1 × 10-7 < P < 0.01). Similarly, lower DNA methylation at cg12876356, cg18316974, cg09662411, and cg18146737 was associated with decreased BMI and WC (5 × 10-8 < P < 0.001). Lower DNA methylation at all the CpGs was consistently associated with higher TG levels. INTERPRETATION: Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors. FUND: European Union's Horizon 2020 research and innovation programme under grant agreement no. 633595 DynaHEALTH.


Assuntos
Proteínas de Ligação a DNA/genética , Suscetibilidade a Doenças , Loci Gênicos , Exposição Materna/efeitos adversos , Fenótipo , Efeitos Tardios da Exposição Pré-Natal , Fumar/efeitos adversos , Fatores de Transcrição/genética , Adulto , Biomarcadores , Ilhas de CpG , Metilação de DNA , Metabolismo Energético , Epigênese Genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miocárdio/metabolismo , Vigilância da População , Gravidez
15.
Angle Orthod ; 88(5): 596-601, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29911907

RESUMO

OBJECTIVES: The fitting of aligners on anchorage teeth is a crucial factor in clear aligner orthodontics. The purpose of this experimental study was to evaluate the fitting of two aligner systems, Invisalign and CA-Clear Aligner, using scanning electron microscopy (SEM). MATERIALS AND METHODS: Passive aligners (Invisalign and CA-Clear Aligner) were adapted on resin casts obtained by stereolithography (STL) files of a patient, and then sectioned buccolingually. Upper and lower central incisors, upper and lower first premolars, and upper and lower first molars were the regions analyzed. Representative microphotographs of sections were taken with a scanning electron microscope (SEM); a total of 160 micrometric measurements were obtained and analyzed with ANOVA tests. RESULTS: Invisalign provided an overall better fit on lower incisors ( F = 11.48, P = .0095) and on lower molars ( F = 19.93, P = .0012). Considering the different regions, Invisalign provided better fit at the gingival edge of the buccal aspect on lower incisors ( F = 11.33, P = 0.0056) and at the gingival edge of the lingual aspect on upper premolars ( F =5.34, P = 0.0047). On the upper molars, Invisalign provided better fit at the gingival edge of the buccal aspect, while CA-Clear Aligner provided better fit at the buccal maximum convexity, on the buccal cusp, on the occlusal groove and at the palatal cusp. On lower molars, Invisalign showed a more accurate fit at the buccal aspect points. CONCLUSIONS: Invisalign and CA-Clear Aligner exhibited comparable fit on anchorage teeth. Invisalign provided better fit at the gingival edges of aligners, while the CA-Clear Aligner provided better fit on complex occlusal surfaces.


Assuntos
Aparelhos Ortodônticos Removíveis , Técnica de Fundição Odontológica , Humanos , Microscopia Eletrônica de Varredura , Estereolitografia
16.
Int J Mol Sci ; 19(3)2018 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-29495593

RESUMO

Worldwide, hypertension still represents a serious health burden with nine million people dying as a consequence of hypertension-related complications. Essential hypertension is a complex trait supported by multifactorial genetic inheritance together with environmental factors. The heritability of blood pressure (BP) is estimated to be 30-50%. A great effort was made to find genetic variants affecting BP levels through Genome-Wide Association Studies (GWAS). This approach relies on the "common disease-common variant" hypothesis and led to the identification of multiple genetic variants which explain, in aggregate, only 2-3% of the genetic variance of hypertension. Part of the missing genetic information could be caused by variants too rare to be detected by GWAS. The use of exome chips and Next-Generation Sequencing facilitated the discovery of causative variants. Here, we report the advances in the detection of novel rare variants, genes, and/or pathways through the most promising approaches, and the recent statistical tests that have emerged to handle rare variants. We also discuss the need to further support rare novel variants with replication studies within larger consortia and with deeper functional studies to better understand how new genes might improve patient care and the stratification of the response to antihypertensive treatments.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Hipertensão/genética , Alelos , Animais , Biomarcadores , Pressão Sanguínea/genética , Estudo de Associação Genômica Ampla , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hipertensão/fisiopatologia , Polimorfismo de Nucleotídeo Único
17.
J Electromyogr Kinesiol ; 38: 44-48, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29156321

RESUMO

BACKGROUND: Correlation between malocclusions and body posture has been discussed in the last decades, but there is still a lack of consensus in existing literature. Rasterstereography allows tridimensional reconstruction of the spine, starting from the back surface analysis. So far studies which tested modifications of rasterstereographic parameters during orthodontic treatment, comparing with those obtained from untreated control group, are not available. Clear aligner treatment produces alteration of vertical height due to the occlusal coverage and, subsequently, a stimulation of periodontal receptors which causes an inhibition of the jaw closing muscles and, hypothetically, changes in mandibular posture. OBJECTIVES: Evaluate possible correlations between orthodontic treatment and posture. MATERIALS AND METHODS: Rasterstereographic values of 15 untreated patients and of 15 patients treated with clear aligners were compared at baseline, after 1, 3 and 6 months. Rasterstereographic parameters considered were the following: the kyphotic angle, the lordotic angle, the upper thoracic inclination, and the pelvic inclination. RESULTS: Correlations between Kyphosis Angle, Upper Toracic Inclination and Pelvic Inclination and body posture were found after 6 months of treatment with clear aligners. CONCLUSIONS: Occlusal coverage caused by aligners could influence body posture not only for upper spine sections but also lower spine sections.


Assuntos
Má Oclusão/terapia , Braquetes Ortodônticos/efeitos adversos , Postura , Curvaturas da Coluna Vertebral/epidemiologia , Feminino , Humanos , Masculino , Curvaturas da Coluna Vertebral/etiologia , Coluna Vertebral/diagnóstico por imagem , Adulto Jovem
18.
Arch Oral Biol ; 83: 25-32, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28692828

RESUMO

OBJECTIVE: The aim of this article was to systematically review the literature to assess the relationship between risk factors and sleep bruxism (SB) in adults (age ≥18 years). DESIGN: A systematic search of the following databases was carried out: PubMed, Embase, Scopus, Cochrane Oral Health Group's Trial Register and Cochrane Register of Controlled Trials, Web of Science, LILACs and SciELO. Nine out of the 4583 initially identified articles were selected. This review was conducted according to the guidelines from the Cochrane Handbook for Systematic Reviews of Interventions, with reporting in agreement to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. RESULTS: Among the nine analyzed articles, associations between SB and gastro-esophageal reflux disease (GERD) (OR=6.6, CI=1.4-30.9) was found in one randomized clinical trial (RCT). Four cross-sectional studies suggested history of SB during childhood (OR=8.1 CI=5.4-12-2), age (OR=3.1, CI=2.3-4.1) and chronic migraine (OR=3.8, C.I=1.8-7.8) as determinant factors for the development of SB. In one case-control study, patients with genetic polymorphisms were more likely to present SB (OR=4.3, CI=1.6-11.3). Smoking (OR=2.8, CI=2.2-3.5) and alcohol intake (OR=1.9, CI=1.2-2.8) showed moderate association in two case-control studies. CONCLUSIONS: History of SB during childhood, gastro-esophageal reflux disease and genetic polymorphisms seem to be important risk factors associated to SB in adults. Dry mouth on awakening seems to be a protective factor. Association does not infer with causality. Even if the evidence emerged from the considered studies was clinically relevant, further studies are requested to better understand the biological mechanisms behind the described associations.


Assuntos
Bruxismo do Sono/etiologia , Adulto , Humanos , Fatores de Risco
19.
Prog Orthod ; 18(1): 12, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28503724

RESUMO

BACKGROUND: Root resorption (RR) is described as a permanent loss of tooth structure from the root apex. Many reports in the literature indicate that orthodontically treated patients are more likely to have severe apical root shortening, interesting mostly maxillary, followed by mandibular incisors. The aim of the study was to investigate the incidence and severity of RR in adult patients treated with aligners. The study group consisted of 71 class I adult healthy patients (mean age 32.8 ± 12.7) treated with aligners (Invisalign®, Align Technologies, Santa Clara, CA, USA). All incisors, canines, upper first premolars, and first molars were assessed. Root and crown lengths of 1083 teeth were measured in panoramic radiographs at the beginning (T0) and at the end (T1) of clear aligner therapy. Individual root-crown ratio (RCR) of each tooth and therefore the relative changes of RCR (rRCR) were determined. A decrease of rRCR was assessed as a reduction of the root length during treatment. RESULTS: All patients had a minimum of one teeth affected with a reduction of root length, on average 6.38 ± 2.28 teeth per patient. Forty one, 81% of the 1083, measured teeth presented a reduction of the pre-treatment root length. A reduction in percentage of >0% up to 10% was found in 25.94% (n = 281), a distinct reduction of >10% up to 20% in 12.18% (n = 132) of the sample. 3.69% (n = 40) of the teeth were affected with a considerable reduction (>20%). CONCLUSIONS: Orthodontic treatment with Invisalign® aligners could lead to RR. However, its incidence resulted to be very similar to that described for orthodontic light forces, with an average percentage of RR < 10% of the original root length.


Assuntos
Reabsorção da Raiz/diagnóstico por imagem , Técnicas de Movimentação Dentária/efeitos adversos , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Má Oclusão Classe I de Angle/terapia , Pessoa de Meia-Idade , Radiografia Panorâmica , Coroa do Dente/diagnóstico por imagem , Técnicas de Movimentação Dentária/instrumentação , Técnicas de Movimentação Dentária/métodos , Raiz Dentária/diagnóstico por imagem , Adulto Jovem
20.
J Hum Kinet ; 56: 61-71, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28469744

RESUMO

A quantitative observational laboratory study was conducted to characterize and classify core training exercises executed in a suspension modality on the base of muscle activation. In a prospective single-group repeated measures design, seventeen active male participants performed four suspension exercises typically associated with core training (roll-out, bodysaw, pike and knee-tuck). Surface electromyographic signals were recorded from lower and upper parts of rectus abdominis, external oblique, internal oblique, lower and upper parts of erector spinae muscles using concentric bipolar electrodes. The average rectified values of electromyographic signals were normalized with respect to individual maximum voluntary isometric contraction of each muscle. Roll-out exercise showed the highest activation of rectus abdominis and oblique muscles compared to the other exercises. The rectus abdominis and external oblique reached an activation higher than 60% of the maximal voluntary contraction (or very close to that threshold, 55%) in roll-out and bodysaw exercises. Findings from this study allow the selection of suspension core training exercises on the basis of quantitative information about the activation of muscles of interest. Roll-out and bodysaw exercises can be considered as suitable for strength training of rectus abdominis and external oblique muscles.

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