942 resultados para RARE CRANIOFACIAL CLEFTS


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Objective: To evaluate whether teeth close to the cleft area present higher prevalence and severity of periodontal disease than teeth in other regions. Design: Cross-sectional. Setting: Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo. Patients: There were 400 Individuals with complete unilateral or bilateral cleft lip and palate, aged 15 to 49 years, without any previous periodontal treatment. Main Outcome Measures: All clinical parameters were evaluated in six sites for each tooth. The arithmetic means were calculated for each sextant. Results: Of the sextants, 86.75% presented means of probing depth smaller than or equal to 3 mm. No sextant exhibited means of probing depth greater than or equal to 6 mm. There was a statistically significant difference (p < .001) in probing depth according to age, types of cleft, and sextant; 95.87% of sextants presented mean attachment levels smaller than or equal to 3 mm, The sextant with cleft did not present higher means of probing depth, clinical attachment level, plaque index, and gingival index. There was gingival bleeding in 99.08% of the sample and plaque In 97.40%. The type of cleft was not an Important factor Influencing the prevalence of periodontal disease. Age seems to be an Important factor influencing the prevalence and severity of periodontal disease for all aspects Investigated. Conclusions: Periodontal disease In individuals with clefts occurred in a similar manner as observed in other populations. The presence of the cleft does not seem to Increase the prevalence of the disease.

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The relationship between the ordering characteristic of the pyrochlore structure type and that characteristic of the defect fluorite structure type (immediately on either side of two phase regions separating the two structure types) in a range of rare eath sesquioxide stabilized cubic zirconias is investigated via electron diffraction and imaging. Systematic structural change as a function of composition and relative size of the constituent metal ions is highlighted and a multi-q to single-q = 1/2 [111]* model proposed for the observed pyrochlore to defect fluorite phase transition. Strain introduced into the close-packed {111} metal ion planes of the defect fluorite average structure by the local cation and oxygen vacancy distribution is pointed to as the likely origin of the observed behavior. (C) 2001 Academic Press

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Mutations in exon 3 of the CTNNB1 gene encoding beta-catenin have been reported in colorectal cancer cell lines and tumours. Although one study reported mutations or deletions affecting beta-catenin in 20% of melanoma cell lines, subsequent reports detected a much lower frequency of aberrations in uncultured melanomas. To determine whether this difference in mutation frequency reflected an in vitro culturing artefact, exon 3 of CTNNB1 was screened in a panel of 62 melanoma cell lines. In addition, reverse transcription-polymerase chain reaction (RT-PCR) was performed to detect intragenic deletions affecting exon 3. One out of 62 (1.6%) cell lines was found to carry a mutation, indicating that aberration of the Wnt-l/wingless pathway through activation of beta-catenin is a rare event, even in melanoma cell lines. (C) 2002 Lippincott Williams Wilkins.

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We present whole-rock and zircon rare earth element (REE) data from two early Archaean gneisses (3.81 Ga and 3.64 Ga) from the Itsaq gneiss complex, south-west Greenland. Both gneisses represent extremely rare examples of unaltered, fresh and relatively undeformed igneous rocks of such antiquity. Cathodoluminescence imaging of their zircons indicates a single crystallisation episode with no evidence for either later metamorphic and/or anatectic reworking or inheritance of earlier grains. Uniform, single-population U/Pb age data confirm the structural simplicity of these zircons. One sample, a 3.64 Ga granodioritic gneiss from the Gothabsfjord, yields a chondrite-normalised REE pattern with a positive slope from La to Lu as well as substantial positive Ce and slight negative Eu anomalies, features generally considered to be typical of igneous zircon. In contrast, the second sample, a 3.81 Ga tonalite from south of the Isua Greenstone Belt, has variable but generally much higher light REE abundances, with similar middle to heavy REE. Calculation of zircon/melt distribution coefficients (D-REE(zircon/melt)) from each sample yields markedly different values for the trivalent REE (i.e. Ce and Eu omitted) and simple application of one set of D-REE(zircon/melt) to model the melt composition for the other sample yields concentrations that are in error by up to two orders of magnitude for the light REE (La-Nd). The observed light REE overabundance in the 3.81 Ga tonalite is a commonly observed feature in terrestrial zircons for which a number of explanations ranging from lattice strain to disequilibrium crystallisation have been proposed and are further investigated herein. Regardless of the cause of light REE overabundance, our study shows that simple application of zircon/melt distribution coefficients is not an unambiguous method for ascertaining original melt composition. In this context, recent studies that use REE data to claim that > 4.3 Ga Hadean detrital zircons originally crystallised from an evolved magma, in turn suggesting the operation of geological processes in the early Earth analogous to those of the present day (e.g. subduction and melting of hydrated oceanic crust), must be regarded with caution. Indeed, comparison of terrestrial Hadean and > 3.9 Ga lunar highland zircons shows remarkable similarities in the light REE, even though subduction processes that have been used to explain the terrestrial zircons have never operated on the Moon. (C) 2002 Elsevier Science B.V. All rights reserved.

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We report a 12-month-old infant who presented with a 4-month history of isosexual precocious puberty secondary to an estrogenizing Sertoli-Leydig cell tumor of the ovary. Total serum immunoreactive inhibin and subunits A and B were markedly elevated before surgical resection and subsequently decreased 7 wk later into the normal prepubertal range. Twenty weeks following surgical removal, the patient presented again with central precocious puberty; inhibin B levels were raised on this occasion, a luteinizing releasing hormone stimulation test confirmed central precocious puberty. This is the youngest reported occurrence of this rare sex cord stromal neoplasm. The prognosis of this extremely rare tumor presenting at this early juvenile stage is uncertain. This report illustrates the usefulness of serum inhibin as a tumor marker during therapeutic suppression with leuprorelin acetate for central precocious puberty. Analysis of genomic and tumor DNA revealed a normal nucleotide sequence for the LH receptor and the G{alpha}s gene. To understand the molecular pathogenesis of this tumor we analyzed mRNA levels for the inhibin A and B subunits, FSH receptor, LH receptor aromatase, steroidogenic factor-1 and the ER ß genes. Molecular characterization reveals the presence of genes specific for granulosa and Leydig cells; the relative expression of these genes, in addition to its histologic characteristics, suggests that this tumor may result from a dysdifferentiation of a primordial follicle.

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Using a subtractive hybridisation approach, we enriched for genes likely to play a role in embryonic development of the mammalian face and other structures. This was achieved by subtracting cDNA derived from adult mouse liver from that derived from 10.5 dpc mouse embryonic branchial arches 1 and 2. Random sequencing of clones from the resultant library revealed that a high percentage correspond to genes with a previously established role in embryonic development and disease, while 15% represent novel or uncharacterised genes. Whole mount in situ hybridisation analysis of novel genes revealed that approximately 50% have restricted expression during embryonic development. In addition to expression in branchial arches, these genes showed a range of expression domains commonly including neural tube and somites. Notably, all genes analysed were found to be expressed not only in the branchial arches but also in the developing limb buds, providing support for the hypothesis that development of the limbs and face is likely to involve analogous molecular processes. (C) 2003 Wiley-Liss, Inc.

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OBJETIVO: este estudo teve como objetivo avaliar por meio de análise cefalométrica as diferenças nas proporções faciais de crianças respiradoras bucais e nasais. FORMA DE ESTUDO: coorte transversal. MATERIAL E MÉTODO: Foram selecionadas 60 crianças entre 6 e 10 anos que, após avaliação otorrinolaringológica para o diagnóstico do tipo de respiração, foram divididas em dois grupos: grupo I, constituído de crianças respiradoras bucais, com elevado grau de obstrução das vias aéreas e grupo II, composto de crianças respiradoras nasais. Os pacientes foram submetidos à avaliação ortodôntica por meio de radiografias cefalométricas em norma lateral, a fim de avaliar as proporções faciais, através das seguintes medidas cefalométricas: SN.GoGn, ArGo.GoMe, N-Me, N-ENA, ENA-Me, S-Go, S-Ar, Ar-Go; e os seguintes índices: iAF=S-Go / N-Me, iAFA=ENA-Me / N-Me e iPFA=N-ENA / ENA-Me. RESULTADO: Foi constatada que a inclinação do plano mandibular (SN.GoGn) nos pacientes respiradores bucais foi estatisticamente maior que nos respiradores nasais, enquanto que a proporção da altura facial posterior e anterior (iAF), e da altura facial anterior superior e inferior (iPFA) foram estatisticamente menores nos pacientes bucais, indicando altura facial posterior menor que a anterior e altura facial anterior inferior aumentada nesses pacientes. CONCLUSÃO: Pode-se concluir, então, que os respiradores bucais tendem a apresentar maior inclinação mandibular e padrão de crescimento vertical, evidenciando a influência da função respiratória no desenvolvimento craniofacial.

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A relação entre variações anatômicas nasais e dores craniofaciais é analisada com base em uma revisão da literatura a respeito deste assunto. Os fatores fisiopatológicos que podem estar implicados nesta reação se mostram muito mais amplos do que simples alterações do septo nasal e conchas nasais que possam causar estímulo mecânico, através do contato entre estas estruturas abrangendo fatores infecciosos, inflamação neurogênica, correlação com migrâneas e o papel da obstrução nasal. Os achados clínicos de diversos autores incluindo a utilização do teste com anestésico tópico para comprovação desta relação causal, assim como para indicação de tratamento cirúrgico, além dos bons resultados deste tratamento, são citados. Discute-se o mecanismo de alívio da dor obtido através de correções cirúrgicas do septo e conchas nasais Estes dados nos levam a concluir que há múltiplos fatores etiológicos envolvidos, o que, inevitavelmente, questiona o papel do aspecto mecânico como fundamental.

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The bifunctional transformation of n-hexane was carried out over Pt/MCM-22 based catalysts. MCM-22 was synthesized and submitted to ion exchange with rare earth nitrate solutions of La, Nd and Yb, followed by Pt introduction. Three different methods were used to introduce about 1 wt% of Pt in the zeolite: ion exchange, incipient wetness impregnation and mechanical mixture with Pt/Al(2)O(3). The bifunctional catalysts were characterized by transmission electron microscopy and by the model reaction of toluene hydrogenation. These experiments showed that, in the ion exchanged sample, Pt is located both within the inner micropores and on the outer surface, whereas in the impregnated one, the metal is essentially located on the outer surface under the form of large particles. The presence of RE elements increases the hydrogenating activity of Pt/MCM-22 since the location of these species at the vicinity of metal particles causes modification on its electronic properties. Whatever the mode of Pt introduction, a fast initial decrease in conversion is observed for n-hexane transformation, followed by a plateau related to the occurrence of the catalytic transformations at the hemicages located at the outer surface of the crystals. The effect of rare earth elements on the hydrogenating function leads to a lower selectivity in dibranched isomers and increased amounts of light products.

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Introduction: Anatomical variations of the extensor tendons to the fingers are of great clinical interest, due to the relatively high frequency of tendon injury in clinical practice. Material and methods: During routine dissection of the right upper limb of a 67-year-old female preserved corpse, the extensor indicis proprius (EIP) muscle belly originated 3 independent tendons, each with a separate fascial sheath, forming a triple EIP tendon. There was a larger tendon, which occupied a central position, that represented the usual single EIP tendon. In addition, there were two thinner radial and ulnar accessory EIP tendons. The radial-EIP tendon crossed deep to the extensor digitorum communis (EDC) tendon to the index finger in the distal half of the dorsum of the hand to reach the radial side of the extensor expansion hood of the index finger. Discussion: According to the literature, the frequency of a triple EIP tendon ranges from 0%, to as high as 7%, although most authors do not acknowledge the presence of this variant in their series. This variant of the EIP tendon, in which the radial-EIP terminated laterally to the termination of the tendon of the EDC to the index finger, may be a source of confusion intraoperatively, as the EIP tendon has traditionally been identified on the basis of its ulnar location with respect to the EDC tendon. Conclusion: The possibility of a triple EIP tendon should certainly be born in mind by all surgeons when performing tendon repairs, tenoplasties or tendon transfers.

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A 73 year-old male farm laborer from a rural area presented a 15 year history of extensive tumoral lesions over his left leg. Histological studies of skin biopsy showed pseudoepitheliomatous hyperplasia and granulomatous chronic inflammatory process with muriform cells, confirming chromoblastomycosis (CBM). Cladophialophora carrionii was isolated in culture. Treatment with itraconazole 400 mg/day for 12 months resulted in complete remission of lesions. As far we aware, this is the first case report of CBM caused by Cladophialophora carrionii in Rio de Janeiro State, Brazil.

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BACKGROUND: Variations in the major arteries of the upper limb are estimated to be present in up to one fifth of people, and may have significant clinical implications. CASE PRESENTATION: During routine cadaveric dissection of a 69-year-old fresh female cadaver, a superficial brachioulnar artery with an aberrant path was found bilaterally. The superficial brachioulnar artery originated at midarm level from the brachial artery, pierced the brachial fascia immediately proximal to the elbow, crossed superficial to the muscles that originated from the medial epicondyle, and ran over the pronator teres muscle in a doubling of the antebrachial fascia. It then dipped into the forearm fascia, in the gap between the flexor carpi radialis and the palmaris longus. Subsequently, it ran deep to the palmaris longus muscle belly, and superficially to the flexor digitorum superficialis muscle, reaching the gap between the latter and the flexor carpi ulnaris muscle, where it assumed is usual position lateral to the ulnar nerve. CONCLUSION: As far as the authors could determine, this variant of the superficial brachioulnar artery has only been described twice before in the literature. The existence of such a variant is of particular clinical significance, as these arteries are more susceptible to trauma, and can be easily confused with superficial veins during medical and surgical procedures, potentially leading to iatrogenic distal limb ischemia.