As craniossinostoses são malformações do crânio decorrentes da ausência ou do fechamento precoce de uma ou de múltiplas suturas cranianas. O tratamento tem por objetivo a correção dos defeitos estéticos e controle da pressão intracraniana. Os distratores ósseos internos são uma opção cirúrgica interessante, pois possibilitam a movimentação óssea em determinada direção, e, consequentemente, uma modificam [sic] a conformação craniana. Esta dissertação descreve o desenvolvimento de um protótipo de distrator ósseo craniano de acionamento magnético percutâneo submetido a testes de bancada. O distrator desenvolvido foi prototipado em resina, contendo as seguintes partes: o cursor, a base, o mecanismo de trava unidirecional em cremalheira e o invólucro de proteção. O sistema de ativação apresenta uma peça ferromagnética interna, um imã externo de ativação e dois parafusos de fixação. O modelo de bancada elaborado simulou as forças necessárias para a distração das placas ósseas cranianas. Os testes de bancada demonstraram que o acoplamento magnético entre o imã externo e os discos ferromagnéticos internos foi capaz de promover um deslocamento máximo de 28 mm entre as placas, equivalente a uma força de 10,88 N. O mecanismo de trava em cremalheira para deslocamento unidirecional foi eficaz ao bloquear o retrocesso do cursor e desta forma manteve a distração. / Craniosynostosis occurs as a result of the absence or premature closure of one or multiple cranial sutures. Its treatment aims at correcting the esthetic defects as well as to control the intra-cranial pressure. The use of internal bone distractors is a valuable surgical option, promoting direct bone movement, and thus modifying the skull contours. This dissertation includes the description of the development and bench testing of a magnetic calvarial bone distractor remotely activated. The distractor is made out of four parts, all prototyped using resin: the cursor, the base, the one-way locking system and the protection cap. The activation system is composed by one internal iron-magnetic plate, one external activation magnet and two fixation screws. The test bench was designed to simulate the expected forces to which the distractor should counteract. The bench testing showed that the magnetic coupling between the external magnet and the iron-magnetic plate was strong enough for the distractor to carry out a maximum 28-mm distraction, being equivalent to a 10.88 N force. The one-way locking system was efficient in preventing the distractor cursor to recede, maintaining the gap between the two plates stable.

Metopic synostosis is a condition in which the metopic suture of the human cranium fuses prematurely and may be related to poor behavioral inhibition leading to behaviors commonly associated with Attention-Deficit Hyperactivity Disorder (ADHD). The purpose of this project was to examine the behavior patterns among children with a history of metopic synostosis. It was hypothesized that children with a history of metopic synostosis would exhibit many of the same behavioral patterns associated with ADHD. It was also hypothesized that children with a history of simple synostosis not involving the metopic suture would not evidence this type of behavioral pattern. In order to test these hypotheses, the behavior of three groups of children was compared including (1) children who had a history of metopic synostosis (M= 7.63 years, SD = 1.92 years), (2) children who had a history of simple craniosynostosis not involving the metopic suture (M= 7.54 years, SD = 1.88 years), and (3) a group of children diagnosed with ADHD (M=7.78 year, SD = 1.87 years). It was found using the Home and School versions of the Attention Deficit Disorders Evaluation Scale (ADDES) that children with a history of metopic synostosis demonstrate significantly more behavioral disturbances than children with a history of simple craniosynostosis not involving the metopic suture. Using the BASC Teacher Rating Form it was found that children with a history of metopic synostosis have a behavior pattern similar to children diagnosed with ADHD and a dissimilar behavior pattern compared to children who have a history of craniosynostosis not involving the metopic suture. Using the BASC Parent Rating Form it was found that children with a history of metopic synostosis have a behavior pattern dissimilar to children diagnosed with ADHD and a dissimilar behavior pattern compared to children who have a history of craniosynostosis not involving the metopic suture.

Includes bibliographical references. / 2 v. : / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Sets out the principles of craniofacial surgery and how they have been utilised to form the Australian Craniofacial Unit. Progress of the organisation is mapped over twenty one years using selected published papers in which the author has in some way contributed to the development of teaching, research and service in craniofacial surgery. Papers are grouped so as to show the progress made in the areas of trauma, the craniosynostoses, rare craniofacial clefts, frontal ethmoidal meningoencephaloceles, craniofacial tumours, as well as research and development. / Thesis (M.D.)--University of Adelaide, Dept. of Surgery, 1999

Cranial and post-cranial non-metric variants are used to examine 664 individuals from the Grasshopper Pueblo skeletal series. The pueblo was inhabited from the 12th to the 14th century A.D. A variety of statistical analyses are utilized to examine patterns of morphological variation which can be used to assess whether biological differences can be demonstrated on the basis of non-metric trait frequencies. All traits are examined for frequency of occurrence, and trait frequencies are then tested to determine if they vary by side of the body, sex, age, type of cranial deformation or association with one another. A series of skeletons are re-tested in order to test intra- and inter-observer reliability. A refined list of traits developed from these analyses is then used to examine trait frequency distributions among the three major room blocks at the site. The full battery of traits used in this study are found to be free of the effects of side of the body, sex, type of cranial deformation and associations with one another, but are affected slightly by age. Intra- and inter-rater reliability are low for this sample and battery of traits. The conclusion is that individuals from the Pueblo do not aggregate into groups which are distinguishable on the basis of non-metric traits.

Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) and occurs in ~1 of every 700 live births. Individuals with DS present craniofacial abnormalities, specifically an undersized, dysmorphic mandible which may lead to difficulty with eating, breathing, and speech. Using the Ts65Dn DS mouse model, which mirrors these phenotypes and contains three copies of ~50% Hsa21 homologues, our lab has traced the mandibular deficit to a neural crest cell (NCC) deficiency in the first pharyngeal arch (PA1 or mandibular precursor) at embryonic day 9.5 (E9.5). At E9.5, the PA1 is reduced in size and contains fewer cells due to fewer NCC populating the PA1 from the neural tube (NT) as well as reduced cellular proliferation in the PA1. We hypothesize that both the deficits in NCC migration and proliferation may cause the reduction in size of the PA1. To identify potential genetic mechanisms responsible for trisomic PA1 deficits, we generated RNA-sequence (RNA-seq) data from euploid and trisomic E9.25 NT and E9.5 PA1 (time points occurring before and after observed deficits) using a next-generation sequencing platform. Analysis of RNA-seq data revealed differential trisomic expression of 53 genes from E9.25 NT and 364 genes from E9.5 PA1, five of which are present in three copies in Ts65Dn. We also further analyzed the data to find that fewer alternative splicing events occur in trisomic tissues compared to euploid tissues and in PA1 tissue compared to NT tissue. In a subsequent study, to test gene-specific treatments to rescue PA1 deficits, we targeted Dyrk1A, an overexpressed DS candidate gene implicated in many DS phenotypes and predicted to cause the NCC and PA1 deficiencies. We hypothesize that treatment of pregnant Ts65Dn mothers with Epigallocatechin gallate (EGCG), a known Dyrk1A inhibitor, will correct NCC deficits and rescue the undersized PA1 in trisomic E9.5 embryos. To test our hypothesis, we treated pregnant Ts65Dn mothers with EGCG from either gestational day 7 (G7) to G8 or G0 to G9.5. Our study found an increase in PA1 volume and NCC number in trisomic E9.5 embryos after treatment on G7 and G8, but observed no significant improvements in NCC deficits following G0-G9.5 treatment. We also observed a developmental delay of embryos from trisomic mothers treated with EGCG from G0-G9.5. Together, these data show that timing and sufficient dosage of EGCG treatment is most effective during the developmental window the few days before NCC deficits arise, during G7 and G8, and may be ineffective or harmful when administered at earlier developmental time points. Together, the findings of both studies offer a better understanding of potential mechanisms altered by trisomy as well as preclinical evidence for EGCG as a potential prenatal therapy for craniofacial disorders linked to DS.

Le rat Dumbo présente un aspect malformatif évoquant certains syndromes crânio-faciaux humains. La compréhension du phénotype Dumbo pourrait expliquer les événements cellulaires et moléculaires à l’origine de ces syndromes. Le données recueillies chez le rat Dumbo et comparées à celles du rat Wistar sont susceptibles de constituer de précieuses informations éventuellement transposables à l’espèce humaine.<p><p>La première étape de cette étude a consisté en des analyses morphologiques et morphométriques afin de vérifier les perturbations morphologiques communes entre les rats Dumbo et les syndromes malformatifs humains :la brièveté des os zygomatique, maxillaire, mandibulaire et la position basse des oreilles. Ces analyses ont été réalisées sur les squelettes embryonnaires âgés de 16 jours à 21 jours de rats Dumbo et Wistar à l’aide d’une coloration in toto au Bleu Alcian – Alizarine. La deuxième étape de cette étude consistait en une analyse cytogénétique. Pour ce faire, nous avons établi le caryotype du rat Dumbo et nous l’avons comparé avec le caryotype du rat Wistar. L’étape suivante fut de procéder à l’analyse histologique des malformations crânio-faciales chez le rat Dumbo en observant la chondrogenèse pendant la morphogenèse crânio-faciale. Enfin, l’examen de l’expression des gènes Msx1 sens (S) ,Msx1 antisens (AS) et Dlx1 dans l’extrémité céphalique des rats Dumbo a été réalisé par les techniques de RT–PCR (Reverse Transcription Polymerase Chain Reaction method). Des estimations semi-quantitatives ont été validées en utilisant des dilutions ADNc du rat Wistar. Des densitométries de la densité d’amplicons fluorescence ont été réalisées à l’aide du logiciel VilberLourmat Bio1D software.<p><p>Les résultats obtenus ont permis de caractériser de manière précise les malformations crânio-faciales chez le rat Dumbo.<p> <p>1-\ / Doctorat en Sciences biomédicales et pharmaceutiques / info:eu-repo/semantics/nonPublished