RESUMO
BACKGROUND: Poverty negatively impacts beneficial aspects of mental development, such as resilience. Toothbrushing, an oral health behavior, has the potential to protect children's resilience through its anti-inflammatory and self-management effects and may be more effective for children, especially children in poverty. This study investigated whether toothbrushing boosts resilience among children, especially children under poverty, and modifies the association between poverty and resilience using a longitudinal population sample of school children. METHODS: Data from the Adachi Child Health Impact of Living Difficulty (A-CHILD Study) were analyzed. A baseline study was conducted in 2015 in which the children were in first grade and followed through fourth grade (N = 3459, response rate: 80%, follow-up rate: 82%). Poverty was assessed by material deprivation (life-related deprivation and child-related deprivation) and annual household income at baseline. Children's toothbrushing frequency was assessed at baseline and classified into less than twice a day or twice or more a day. Children's resilience was assessed at baseline and follow-up using the Children's Resilient Coping Scale (range 0-100). RESULTS: Children who brushed their teeth twice or more a day in first grade had 3.50 points greater resilience scores in fourth grade than those who brushed their teeth less than twice a day in first grade. After adjusting for confounders, including resilience in first grade, among underpoverty children, those who brushed their teeth twice or more a day in first grade had higher resilience scores [2.66 (95% CI = 0.53, 4.79)] than those who brushed their teeth less than twice a day. Among nonpoverished children, toothbrushing frequency in first grade did not significantly correlate with resilience in fourth grade. CONCLUSIONS: The beneficial effect of toothbrushing twice or more a day on resilience was more significant among children in poverty than among those without poverty in elementary school in Japan. Health policy focused on frequent toothbrushing may contribute to boosting resilience among children living in poverty.
Assuntos
Pobreza , Resiliência Psicológica , Escovação Dentária , Humanos , Escovação Dentária/estatística & dados numéricos , Criança , Estudos Longitudinais , Feminino , MasculinoRESUMO
OBJECTIVE: This study aimed to reveal the effects of SET domain bifurcated 1 (SETDB1) on epithelial cells during tooth development. DESIGN: We generated conditional knockout mice (Setdb1fl/fl,Keratin14-Cre+ mice), in which Setdb1 was deleted only in epithelial cells. At embryonic day 14.5 (E14.5), immunofluorescence staining was performed to confirm the absence of SETDB1 within the epithelium of tooth embryos from Setdb1fl/fl,Keratin14-Cre+ mice. Mouse embryos were harvested after reaching embryonic day 13.5 (E13.5), and sections were prepared for histological analysis. To observe tooth morphology in detail, electron microscopy and micro-CT analysis were performed at postnatal months 1 (P1M) and 6 (P6M). Tooth embryos were harvested from postnatal day 7 (P7) mice, and the epithelial components of the tooth embryos were isolated and examined using quantitative RT-PCR for the expression of genes involved in tooth development. RESULTS: Setdb1fl/fl,Keratin14-Cre+ mice exhibited enamel hypoplasia, brittle and fragile dentition, and significant abrasion. Coronal sections displayed abnormal ameloblast development, including immature polarization, and a thin enamel layer that detached from the dentinoenamel junction at P7. Electron microscopic analysis revealed characteristic findings such as an uneven surface and the absence of an enamel prism. The expression of Msx2, Amelogenin (Amelx), Ameloblastin (Ambn), and Enamelin (Enam) was significantly downregulated in the epithelial components of tooth germs in Setdb1fl/fl,Keratin14-Cre+ mice. CONCLUSIONS: These results indicate that SETDB1 in epithelial cells is important for tooth development and clarify the relationship between the epigenetic regulation of SETDB1 and amelogenesis imperfecta for the first time.
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Células Epiteliais , Histona-Lisina N-Metiltransferase , Dente , Animais , Camundongos , Ameloblastos/metabolismo , Amelogenina , Esmalte Dentário/embriologia , Células Epiteliais/metabolismo , Histona-Lisina N-Metiltransferase/genética , Camundongos Knockout , Microscopia Eletrônica , Odontogênese , Reação em Cadeia da Polimerase em Tempo Real , Dente/embriologia , Dente/crescimento & desenvolvimento , Microtomografia por Raio-XRESUMO
Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.
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Síndrome de Goldenhar , Fenótipo , Humanos , Masculino , Síndrome de Goldenhar/genética , Síndrome de Goldenhar/patologia , Síndrome de Goldenhar/diagnóstico , Lactente , Fatores de Processamento de RNA/genética , Proteínas Repressoras/genética , Sequenciamento do Exoma , Mandíbula/anormalidades , Mandíbula/patologia , Linhagem , Códon sem Sentido/genéticaRESUMO
Short stature in children is a marker of low nutritional status and has been suggested to be associated with dental caries. However, longitudinal studies on this topic are scarce. Data from a longitudinal study of elementary school children in Adachi City, Tokyo, Japan, were analyzed. In 2015, caregivers of children at grade 1 answered questionnaires, and information on dental caries and height measured at school health checkups was merged and followed to grade 6 (N = 3576; follow up rate = 83.3%). The association between short stature at grade 1 (-2.01 standard deviation (SD)--3.00 SD, or <-3.00 SD in height-for-age according to the World Health Organization criteria) and the number of decayed, missing, or filled permanent teeth (DMFT) at grade 6 was examined using multivariable Poisson regression with robust standard error. After adjusting for confounders, children with a short stature at grade 1 had a higher DMFT number at grade 6: the mean ratios (95% confidence interval) were 1.17 (0.89-1.54) and 2.18 (1.03-4.64) for children with a height-for-age -2.01 SD--3.00 SD, and those with a height-for-age < -3.00, respectively. Short stature at grade 1 could be a marker of future dental caries in the permanent teeth at grade 6.
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Cárie Dentária , Criança , Humanos , Pré-Escolar , Japão/epidemiologia , Estudos de Coortes , Cárie Dentária/epidemiologia , Suscetibilidade à Cárie Dentária , Estudos LongitudinaisRESUMO
OBJECTIVES: The purpose of this study was to perform morphological and immunohistochemical (IHC) analysis of the submandibular glands (SMGs) in early development in Apert syndrome model mice (Ap mice). METHODS: ACTB-Cre homozygous mice were mated with fibroblast growth factor receptor 2 (Fgfr2+/Neo-S252W) mice; ACTB-Cre heterozygous mice (ACTB-Cre mice) at embryonic day (E) 13.5 served as the control group, and Fgfr2+/S252W mice (Ap mice) served as the experimental group. Hematoxylin and eosin (H&E) staining was performed on SMGs; Total SMG area and epithelial area were determined, and the epithelial occupancy ratio was calculated. Immunostaining was performed to assess the localization of FGF signaling-related proteins. Next, bromodeoxyuridine (BrdU)-positive cells were evaluated to assess cell proliferation. Finally, terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) staining was performed to assess apoptosis in SMGs. RESULTS: The epithelial occupancy ratio was significantly higher in SMGs of Ap mice compared with that in SMGs of controls. FGF7 and bone morphogenetic protein 4 (BMP4) exhibited different localizations in SMGs of Ap mice compared with SMGs of controls. Cell proliferation was higher in SMGs of Ap mice compared with that of controls; however, apoptosis did not different significantly between the two groups. CONCLUSION: Our results suggest that enhanced FGF signaling conferred by missense mutations in FGFR2 promotes branching morphogenesis in SMGs of Ap mice.
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Acrocefalossindactilia , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos , Animais , Camundongos , Acrocefalossindactilia/genética , Morfogênese/genética , Mutação , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Glândula SubmandibularRESUMO
OBJECTIVES: Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked genetic disorder caused by mutations in the BCL6 co-repressor (BCOR) and is mainly characterized by radiculomegaly (elongated dental roots). All BCOR mutations reported to date have been associated with premature termination codons, indicating that nonsense-mediated mRNA decay (NMD) might play a vital role in the pathogenesis of OFCD syndrome. However, the molecular mechanisms underlying NMD remain unclear. In this study, we investigated the involvement of up-frameshift protein 1 (UPF1), which plays a central role in NMD, in the hyperactive root formation caused by BCOR mutations. METHODS: Periodontal ligament cells, isolated from a Japanese woman with a c.3668delC frameshift mutation in BCOR, and primary human periodontal ligament fibroblasts (HPdLFs) were used for an RNA immunoprecipitation assay to confirm the binding of UPF1 to mutated BCOR. Additionally, the effects of UPF1 on the BCOR transcription levels and corresponding gene expression were determined by performing relative quantitative real-time polymerase chain reactions. RESULTS: RNA immunoprecipitation revealed that UPF1 binds to exon 9 of mutated BCOR. Additionally, UPF1 knockdown via siRNA upregulated the transcription of BCOR, whereas overexpression of wild-type and mutated BCOR with the same frameshift mutation in HPdLFs altered bone morphogenetic protein 2 (BMP2) expression. CONCLUSIONS: Our findings indicate that BCOR mutations regulate the transcription of BCOR via UPF1, which may in turn regulate the expression of BMP2. NMD, caused by a c.3668delC mutation, potentially leads to an OFCD syndrome phenotype, including elongated dental roots.
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Catarata/congênito , Mutação da Fase de Leitura , Defeitos dos Septos Cardíacos , Microftalmia , Degradação do RNAm Mediada por Códon sem Sentido , Feminino , Humanos , Mutação da Fase de Leitura/genética , Degradação do RNAm Mediada por Códon sem Sentido/genética , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Códon sem Sentido/genética , Transativadores/genética , Transativadores/metabolismo , RNA Helicases/genética , RNA Helicases/metabolismoRESUMO
BMP2 (bone morphogenic protein-2) is a member of the TGF-ß superfamily and has essential roles in the development of multiple organs, including osteogenesis. Because of its crucial role in organ and skeletal development, Bmp2 null mice is fetal lethal. The recent report has characterized multiple patients with BMP2 haploinsufficiency, describing individuals with BMP2 sequence variants and deletions associated with short stature without endocrinological abnormalities, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease. However, due to a small number of reported patients with BMP2 haploinsufficiency, the genotype and phenotype correlations are not fully understood. We experienced a family of BMP2 haploinsufficiency with a novel frameshift variant NM_001200.4: c.231dup (p.Tyr78Leufs*38) which was predicted to be "pathogenic" by the American College of Genetics and Genomics (ACGM) criteria. In addition to short stature, impaired hearing ability and minor skeletal deformities, the proband exhibited isolated dextrocardia situs solitus without cardiac anomalies and abnormal locations of other visceral organs. Our study would shed light on the crucial role of BMP2 in determining the cardiac axis, and further studies are needed to assemble more cases to elucidate BMP2 role in human heart development.
Assuntos
Dextrocardia , Nanismo , Cardiopatias Congênitas , Camundongos , Animais , Humanos , Dextrocardia/diagnóstico por imagem , Dextrocardia/genética , Cardiopatias Congênitas/genética , Genótipo , Família , Fator de Crescimento Transformador beta/genética , Proteína Morfogenética Óssea 2/genéticaRESUMO
BACKGROUND: The aim of this study was to investigate the effects of orthodontic miniscrew pitch and thread shape on microdamage in cortical bone. The relationship between the microdamage and primary stability was also examined. METHODS: Ti6Al4V orthodontic miniscrews and 1.0-mm-thick cortical bone pieces from fresh porcine tibia were prepared. The orthodontic miniscrews had custom-made thread height (H) and pitch (P) size geometries, and were classified into three groups: control geometry; HCPC (HC; thread height = 0.12 mm, PC; pitch size = 0.60 mm), geometry with a narrower pitch; HCPN (HC; thread height = 0.12 mm, PN; pitch size = 0.30 mm), and geometry with a taller thread height; HTPC (HT; thread height = 0.36 mm, PC; pitch size = 0.60 mm). The orthodontic miniscrews were inserted into a pilot hole in the cortical bone, and maximum insertion torque and Periotest value were measured. After insertion, the samples were stained with basic fuchsin. Histological thin sections were obtained and the bone microdamage parameters, i.e., total crack length and total damage area, and insertion state parameters, i.e., orthodontic miniscrew surface length and bone compression area were calculated. RESULTS: The orthodontic miniscrews with the taller thread height resulted in lower primary stability with minimal bone compression and microdamage; however, the narrower thread pitch led to maximum bone compression and extensive bone microdamage. CONCLUSIONS: A wider thread pitch reduced microdamage, and decreased thread height resulted in increased bone compression, ultimately resulting in increased primary stability.
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Parafusos Ósseos , Procedimentos de Ancoragem Ortodôntica , Animais , Suínos , Parafusos Ósseos/efeitos adversos , Procedimentos de Ancoragem Ortodôntica/efeitos adversos , Procedimentos de Ancoragem Ortodôntica/métodos , Osso e Ossos , Osso Cortical , TorqueRESUMO
OBJECTIVE: Apert syndrome, an autosomal dominant congenital disorder characterized by craniosynostosis, is caused by a missense mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). Exosomes are naturally occurring carriers that deliver nucleic acids, including small interfering RNA (siRNA), to induce gene silencing. This study aimed to develop siRNA-loaded exosomes (Ex-siRNAFgfr2S252W) to silence the Fgfr2S252W gain-of-function mutation, thereby inhibiting the increased osteoblastic differentiation caused by the constitutive activation of FGFR2 signaling in calvarial osteoblastic cells isolated from Apert syndrome model mice. DESIGN: Primary calvarial osteoblast-like cells were isolated from the embryonic calvarial sutures of the Apert syndrome model (Fgfr2S252W/+) and littermate wild-type mice (Ap-Ob and Wt-Ob, respectively). Exosomes were extracted from the serum of wild-type mice, validated using biomarkers, and used to encapsulate siRNAs. After exosome-mediated siRNA transfection, cells were analyzed under a fluorescence microscope to validate the delivery of Ex-siRNAFgfr2S252W, followed by western blot and real-time reverse transcription polymerase chain reaction analyses. RESULTS: After 24 h of Ex-siRNAFgfr2S252W delivery in both Ap-Ob and Wt-Ob, siRNA-loaded exosome delivery was validated. Moreover, p44/42 mitogen-activated protein kinase (MAPK) phosphorylation, runt-related transcription factor 2 (Runx2), and collagen type 1 alpha 1 (Col1a1) mRNA expression, and alkaline phosphatase (ALP) activity were significantly increased in Ap-Ob. The levels of phospho-p44/42 protein, Runx2, Col1a1, and ALP were significantly decreased after Ex-siRNAFgfr2S252W transfection but did not affect Wt-Ob. CONCLUSIONS: These results indicate that exosome-mediated delivery of siRNA targeting Fgfr2S252W is a potential non-invasive treatment for aberrant FGF/FGFR signaling.
Assuntos
Acrocefalossindactilia , Exossomos , Camundongos , Animais , Acrocefalossindactilia/genética , Acrocefalossindactilia/metabolismo , Subunidade alfa 1 de Fator de Ligação ao Core/genética , RNA Interferente Pequeno/farmacologia , Exossomos/metabolismo , Diferenciação Celular , Osteoblastos/metabolismoRESUMO
In orthodontics, understanding the pressure of oral soft tissues on teeth is important to elucidate the cause and establish treatment methods. We developed a small wireless mouthguard (MG)-type device that continuously and unrestrainedly measures pressure, which had previously been unachieved, and evaluated its feasibility in human subjects. First, the optimal device components were considered. Next, the devices were compared with wired-type systems. Subsequently, the devices were fabricated for human testing to measure tongue pressure during swallowing. The highest sensitivity (51-510 g/cm2) with minimum error (CV < 5%) was obtained using an MG device with polyethylene terephthalate glycol and ethylene vinyl acetate for the lower and upper layers, respectively, and with a 4 mm PMMA plate. A high correlation coefficient (0.969) was observed between the wired and wireless devices. In the measurements of tongue pressure on teeth during swallowing, 132.14 ± 21.37 g/cm2 for normal and 201.17 ± 38.12 g/cm2 for simulated tongue thrust were found to be significantly different using a t-test (n = 50, p = 6.2 × 10-19), which is consistent with the results of a previous study. This device can contribute to assessing tongue thrusting habits. In the future, this device is expected to measure changes in the pressure exerted on teeth during daily life.
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Protetores Bucais , Língua , Humanos , Pressão , Deglutição , HábitosRESUMO
BACKGROUND/OBJECTIVES: Hypoxia during orthodontic tooth movement (OTM) induces reactive oxygen species (ROS) production in periodontal tissues. Superoxide dismutase 3 (SOD3) is an anti-inflammatory enzyme that protects cells from ROS. This study investigated the expression and function of SOD3 during rat OTM and in hypoxia-exposed rat periodontal ligament (PDL) cells. MATERIALS/METHODS: OTM of right maxillary first molars were performed in 8-week-old male Sprague-Dawley rats using closed-coil spring for 1 and 14 days (n = 6 per group). SOD3 and hypoxia-inducible factor 1-alpha (HIF-1α) protein expression was evaluated by immunohistochemistry. The effects of SOD3 on cell viability and proliferation, ROS production, and mRNA expression of Hif1-α, receptor activator of nuclear factor kappa-Β ligand (Rankl), and osteoprotegerin (Opg) in PDL cells and osteoclast differentiation were investigated under normal and hypoxic conditions. RESULTS: SOD3 expression in PDL tissues significantly decreased on the compression side on day 1 and on both sides on day 14 of OTM. HIF-1α levels significantly increased on the compression side on day 14. Cell viability, cell proliferation, and Opg mRNA expression decreased, whereas ROS production and Hif1-α and Rankl mRNA expression increased in the PDL cells upon SOD3 silencing. Hypoxia reduced Sod3 and Opg mRNA expression and increased ROS, Rankl mRNA expression, and osteoclast formation; SOD3 treatment attenuated these effects. CONCLUSION/IMPLICATIONS: SOD3 plays a role in periodontal tissue remodelling during OTM and in hypoxia-exposed PDL cells through ROS, HIF-1α, and RANKL/OPG pathways. Moreover, SOD3 treatment could attenuate the negative effects of hypoxia on the PDL cells.
Assuntos
Ligamento Periodontal , Técnicas de Movimentação Dentária , Animais , Masculino , Ratos , Hipóxia/metabolismo , Dente Molar/metabolismo , Osteoclastos , Osteoprotegerina/metabolismo , Ligamento Periodontal/metabolismo , Ligante RANK/metabolismo , Ratos Sprague-Dawley , Espécies Reativas de Oxigênio/metabolismo , RNA Mensageiro/metabolismo , Superóxido Dismutase/metabolismoRESUMO
BACKGROUND: This study aimed to evaluate differences in vowel production using acoustic analysis in skeletal Class III and Class I Japanese participants and to identify the correlation between vowel sounds and cephalometric variables in skeletal Class III subjects. MATERIALS AND METHODS: Japanese males with skeletal Class III (ANB < 0°) and Class I skeletal anatomy (0.62° < ANB < 5.94°) were recruited (n = 18/group). Acoustic analysis of vowel sounds and cephalometric analysis of lateral cephalograms were performed. For sound analysis, an isolated Japanese vowel (/a/,/i/,/u/,/e/,/o/) pattern was recorded. Praat software was used to extract acoustic parameters such as fundamental frequency (F0) and the first four formants (F1, F2, F3, and F4). The formant graph area was calculated. Cephalometric values were obtained using ImageJ. Correlations between acoustic and cephalometric variables in skeletal Class III subjects were then investigated. RESULTS: Skeletal Class III subjects exhibited significantly higher/o/F2 and lower/o/F4 values. Mandibular length, SNB, and overjet of Class III subjects were moderately negatively correlated with acoustic variables. LIMITATIONS: This study did not take into account vertical skeletal patterns and tissue movements during sound production. CONCLUSION: Skeletal Class III males produced different /o/ (back and rounded vowel), possibly owing to their anatomical positions or adaptive changes. Vowel production was moderately associated with cephalometric characteristics of Class III subjects. Thus, changes in speech after orthognathic surgery may be expected. A multidisciplinary team approach that included the input of a speech pathologist would be useful.
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Sobremordida , Acústica da Fala , Masculino , Humanos , Fala , Acústica , CefalometriaRESUMO
Background: Schizophrenia is a major mental disorder, with an estimated incidence of 1%. Since they are sensitive to sensory changes, orthodontic treatment to move teeth should be avoided as aggressively as possible in these patients because of strong concerns about the possibility of causing adverse psychological effects, thus there are few reports on orthodontic treatment for schizophrenia patients. We report a case of severe open bite caused by medication after the onset of schizophrenia, even though the patient's occlusion had been stable for a long time after surgical orthodontic treatment. Medication control and the use of a minimally invasive orthodontic appliance improved the occlusion without adversely affecting the patient's mental health. Case: A 22-year-old woman presented to the clinic with a chief complaint of an anterior open bite. Intraoral findings showed an overbite (vertical overlap of the incisor teeth) of -3.0 mm and an overjet (horizontal overlap of the incisor teeth) of -0.5 mm. The preoperative orthodontic treatment included bilateral extraction of the maxillary first premolars. Subsequently, orthognathic surgery was performed to achieve a harmonized skeletal relationship and occlusion. Occlusion was stable for 3 years after surgery. However, 10 years after surgery, the patient returned to the clinic complaining of an anterior open bite (overbite = -4.0 mm). Six years prior to the return, the patient was diagnosed with schizophrenia. We thought that ignoring the patient's strong desire to treat her open bite might also cause psychological problems; therefore, in addition to medication control, we treated her using a minimally invasive removable orthodontic appliance (retainer with tongue crib). Her anterior open bite improved (overbite, +1.0 mm) to within the normal range. Conclusion: In this case, medication control was thought to be essential to improve her drug-induced open bite. However, minimally invasive orthodontic treatment, such as the use of a removable appliance, might be helpful in promoting her mental stability as well as for improving occlusion. Careful support is required to obtain information about the patient's mental state and medications through close cooperation with psychiatrists.
RESUMO
BACKGROUND: Investigating the morphological and functional effects on mandibular asymmetry (MA) is important not only to understand the developmental process of masticatory dysfunction, but also to provide suggestions for evidence-based occlusal treatment. AIM: To evaluate three-dimensional temporomandibular joint (TMJ) morphology and its relationship to asymmetrical condylar movement in MA patients. MATERIALS AND METHODS: Fifty subjects were divided into MA and control groups (n = 25 each) according to a menton deviation of 4 mm from the mid-sagittal plane. TMJ morphology (condyle, glenoid fossa and TMJ spaces) were evaluated using a three-dimensional analysis programme. Three-dimensional condylar movements (from the sagittal and horizontal planes) were recorded and measured by computerized axiography on protrusion. Side-to-side asymmetry was measured for each parameter. The asymmetry index value was calculated to assess the correlation between TMJ morphology and condylar movement. For the statistical analysis, Wilcoxon's signed-ranked test, the Mann-Whitney U test, and Spearman's rank correlation were used. RESULTS: Glenoid fossa volume, surface area, anteroposterior length, and condylar volume were significantly smaller, and articular eminence angle, glenoid fossa, and condylar axial angle were significantly larger, on the shifted side of the MA group when compared with those on the non-shifted side and the mean values of the control group (P < 0.05). The TMJ spaces of the MA group showed no bilateral difference but were significantly narrower in the medial, superior, and anterior joint spaces when compared with the control group (P < 0.05). Condylar path length and sagittal condylar inclination were significantly asymmetrical. The asymmetry index of the condyle volume was significantly correlated with that of the condylar path length (P = 0.005). The asymmetry index of the glenoid fossa volume and the articular eminence angle were significantly correlated with that of the sagittal condylar inclination (P = 0.009 and P = 0.002, respectively), and the asymmetry index of glenoid fossa volume was significantly correlated with the bilateral transverse condylar inclination (P = 0.006 and P = 0.016, respectively). CONCLUSIONS: Morphological asymmetry of the TMJ is significantly different between the shifted and non-shifted sides and is closely related to functional asymmetry of condylar movement in MA patients. (350/350).
Assuntos
Assimetria Facial , Côndilo Mandibular , Humanos , Assimetria Facial/diagnóstico por imagem , Mandíbula/diagnóstico por imagem , Côndilo Mandibular/diagnóstico por imagem , Movimento , Articulação Temporomandibular/diagnóstico por imagemRESUMO
(1) This study aimed to investigate the association between child abuse and oral habits in adolescents in Mongolia. (2) A cross-sectional survey was conducted with children and their caregivers in Ulaanbaatar, Mongolia. Parents of 770 children enrolled in two public schools in Ulaanbaatar, Mongolia, completed questionnaires regarding the physical and psychological abuse that their children were subjected to and the presence of poor oral habits (biting nails/lips/pens and bruxism). Multivariable Poisson regression models were fitted with adjustment for age, gender, age of the mother, parental education, family income level, birth order, and living status with grandparents. (3) Biting nails/lips/pens and bruxism were reported by 39.0% and 17.5% of the respondents, respectively. Biting nails/lips/pens was significantly associated with physical abuse but was not significantly associated with psychological abuse (prevalence ratio, PR [95% confidence interval, CI]: 1.44 [1.07-1.95] and 1.34 [0.98-1.83], respectively). However, bruxism was not associated with physical or psychological abuse (PR [95% CI]: 1.16 [0.77-1.77] and 1.04 [0.68-1.61], respectively). (4) Child abuse was associated with biting habits among Mongolian adolescents.
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Bruxismo , Maus-Tratos Infantis , Adolescente , Criança , Estudos Transversais , Feminino , Hábitos , Humanos , Mães , Prevalência , Inquéritos e QuestionáriosRESUMO
AMOTL1 is a member of the Motin protein family and localizes to tight junctions and is involved in cell polarity and paracellular permeability. Pathological variants have been reported in three patients from two separate families in recent years. The clinical spectrum includes cleft lip and palate along with a high incidence of congenital cardiac disease and ear malformations. We report a case of AMOTL1 pathogenic variant in a 11-year-old male patient with nonspecific and chronic liver dysfunction accompanied by persistently elevated liver enzymes since early infancy. Liver biopsy at 8 years of age revealed a mildly dilated central vein and sinusoid with no specific etiology. Liver dysfunction is not a known clinical feature of AMOTL1 malfunction. However, given that the protein is known to be involved in angiogenesis, it may be inferred that abnormalities in this process may lead to liver dysfunction. This is the first report of liver dysfunction identified in a patient with AMOTL1 malfunction, which will shed light on other putative functions of the protein.
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Fenda Labial , Fissura Palatina , Hepatopatias , Angiomotinas , Criança , Fenda Labial/complicações , Fissura Palatina/complicações , Humanos , Hepatopatias/genética , Masculino , Proteínas de Membrana/metabolismoRESUMO
Mutations in the B-cell lymphoma 6 (BCL6) interacting corepressor (BCOR) cause oculo-facio-cardio-dental (OFCD) syndrome, a rare X-linked dominant condition that includes dental radiculomegaly among other characteristics. BCOR regulates downstream genes via BCL6 as a transcriptional corepressor. However, the molecular mechanism underlying the occurrence of radiculomegaly is still unknown. Thus, this study was aimed at identifying BCOR-regulated genetic pathways in radiculomegaly. The microarray profile of affected tissues revealed that the gene-specific transcriptional factors group, wherein nucleus factor 1B, distal-less homeobox 5, and zinc finger protein multitype 2 (ZFPM2) were the most upregulated, was significantly expressed in periodontal ligament (PDL) cells of the diseased patient with a frameshift mutation (c.3668delC) in BCOR. Wild-type BCOR overexpression in human periodontal ligament fibroblasts cells significantly hampered cellular proliferation and ZFPM2 mRNA downregulation. Promoter binding assays showed that wild-type BCOR was recruited in the BCL6 binding of the ZFPM2 promoter region after immunoprecipitation, while mutant BCOR, which was the same genotype as of our patient, failed to recruit these promoter regions. Knockdown of ZFPM2 expression in mutant PDL cells significantly reduced cellular proliferation as well as mRNA expression of alkaline phosphatase, an important marker of odontoblasts and cementoblasts. Collectively, our findings suggest that BCOR mutation-induced ZFPM2 regulation via BCL6 possibly contributes to hyperactive root formation in OFCD syndrome. Clinical data from patients with rare genetic diseases may aid in furthering the understanding of the mechanism controlling the final root length.