What we know about Cherubism?

What we know about Cherubism?

Abstracts 146 What we know about Cherubism? growth/development/maturation of neural brain-CB/somatic immune system continues, full ontological pace...

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146 What we know about Cherubism?

growth/development/maturation of neural brain-CB/somatic immune system continues, full ontological pace. Methods: This paper explores ontolog1,2 R. Dei Castelli ical significance of brain/CB and immune 1 Oral Surgery, Instituto Odonto system in concert in fetus/neonate. Estomatológico, Formosa, Argentina 2 Results/discussion: CB studies show Oral Surgery Residency Program, 2nd trimester anterior CB begins faster Universidad Maimonides, Buenos Aires, Argentina elongation rate, p < 0.001, matching midline extension brain-enlargement. A sigCherubism is a rare autosomal dominificant phylogenetic identity shift, early nant disease of the maxilla and mandible. fusion of intrinsically controlled midApproximately 200 cases have been sphenoid-synchondrosis, is an added elonreported by medical journals with the gation enhancement, comprising crista majority being males. The cause of the disgalli/olfactory receptors. An unexpected ease is believed to be traced to a genetic link between immune/olfactory systems by defect resulting from a mutation of the major histocompatibility complex (MHC) SH3BP2 gene from chromosome 4p16.3. transmits information about MHC genoNormal bone remodeling activity may types/influences behavior/reinforces new resume after puberty. human identity. These and several others aspects of Maturation of human immune the reported knowledge on this pathology response/brain growth follows same motivated us to present this paper which developmental pattern 1st year postnatal will present a complete family affected by life. Conserved genome plasticity of Cherubism with different involvement in immune response is 515 million years old; several members who do not follow the basic strategy for antigen presentation, conventional presentation of this disease. MHC molecules, with protein-bindingSix members of the same family preregion polymorphism was established. sented with different stages of development Conserved gene plasticity for neocortex of Cherubism, 3 females of 12, 25 and 45 development is 57 million years young; years old and 3 males of 5, 7 and 14 years genes RFPL1,2,3 duplication/clusterold. Clinical presentation varied from uniarrangement began neural expression for lateral maxillary peripheral lesion to a total neocortex-size/organizational changes. involvement of the facial bones in a very Life history theory, focusing on nutridramatic manner. tion/pathogens, favors trade-offs for privVarious treatment modalities were used ileged brain/immune systems, investin these patients including a right hemi ment associated with increased socimandible resection for a malignant degenety longevity. Embryonic gene assemeration of one of the large lesion of the bly confers vulnerability/responsiveness mother of the family. to environmental context the immaThe aims of this paper are to present ture brain relies on to establish/guide the evolution of these patients giving spepathways/connections. Maximized nutricial attention to those issues that are not tion investment/outcome: 60% for brain usual shown in the scientific literature. We growth 3rd trimester/60% BMR neonate will present the genetic family tree and our brain results in brain 3:1/neocortex 3.6:1 understanding on this disease after treated larger than expected. Fetal capacity this family for 20 years. for immune responsiveness develops 1st Conflict of interest: None declared. trimester; driven by omnipresent environmental pathogens, infancy/growth investdoi:10.1016/j.ijom.2011.07.409 ment is maximization by rapid development of individually refined/costly specific immune-repertoire. Conclusion: Evolutionary principles 147 inform central design features for brainHow evolutionary anthropology CB/immune defenses, constrained by informs the ontogeny (growth/development/maturation) genetic-programming with intergeneraof the immune response relevant tional effects: identity, plasticity, and fitness. to the brain/cranial base (CB) Conflict of interest: None declared. A.R. Kunz Evolutionary Anthropology, Harvard doi:10.1016/j.ijom.2011.07.410 University (Extension), Boston, MA, USA Introduction: General somatic growth slows down, 4.4 months gestation, yet


148 Paediatric facial injuries in Scotland 2001–2009: epidemiological and sociodemographic aspects O. Rhouma 1,∗ , A. McMahon 1 , D. Conway 1 , M. Armstrong 2 , R. Welbury 1 , C. Goodall 1 1 Glasgow Dental Hospital and School, The Univeristy of Glasgow, Glasgow, UK 2 Information Services Division (ISD), NHS National Services Scotland, Edinburgh, UK

Background: Paediatric facial injury can lead to significant morbidity. Sociodemographic determinants in Scotland have not previously been reported. Aim: To analyse the pattern, time trends, and key sociodemographic determinants in children and adolescents who have suffered facial trauma. Method: Scottish Morbidity records (SMR01) for the period 2001–2009 were retrieved from the Information Services Division in Scotland (ISD): annual incidences were calculated by age, gender, health board, SIMD (Scottish Index of Multiple Deprivation) and mechanism of injury. A Poisson regression analysis model was used to incorporate the variables. Results: 45,388 (0.05%) of 9,568,185 persons aged 0–17 years had suffered injury (4.7 per 1000 population). 60% of injuries were due to accidents, with an additional 15% due to traffic accidents, 9% due to assault. 4.5% were alcohol related. The incidence decreased over time from 5.5/1000 in 2001 to 4.0/1000 in 2009. The relative ratio (RR) for males was 1.98 times greater than females (p < 0.001). RR varied significantly between Heath Boards (areas) from 0.68 (Dumfries) −1.76 (Grampian) (p < 0.001). There was a significant association between facial injury and deprivation (p < 0.001); SIMD 1 (most deprived) has the highest incidence rate of 6.3/1000 population (RR = 1.89), while in SIMD 5 (least deprived) the incidence rate was 3.7/1000 population (RR = 1.08). Conclusion: Among the Scottish paediatric population the incidence and RR of facial injury is higher in males living in areas of social deprivation. Many injuries are due to accidents and more needs to be done to direct education and resources towards prevention. Conflict of interest: None. doi:10.1016/j.ijom.2011.07.411