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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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]