Fragile X-syndrome: literature review and report of two cases

Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an increase in testicle size. The disease is associated with cardiac malformations, joint hyperextension and behavioural alterations. We present two male patients aged 17 and 10 years, treated in our Service due to severe gingivitis. Both showed the typical facial and dental characteristics of the syndrome. In addition, we detected the presence of root anomalies such as taurodontism and root bifurcation, which had not been associated with fragile X-syndrome in the literature. In some cases these root malformations have been associated with other sex-linked congenital syndromes, though in none of the studies published in the literature have they been related with fragile X-syndrome. This syndrome is relevant due to its high prevalence, the presentation of certain oral and facial characteristics that can facilitate the diagnosis, and the few cases published to date

Controle de qualidade de medidores de tensão não-invasivos em equipamento de raios X, nível diagnóstico

Este trabalho apresenta os testes de controle de qualidade feitos em um equipamento de raios X monofásico e em dois sistemas de monitoração não-invasivos. Os resultados foram comparados com os valores apresentados por um sistema de monitoração invasivo e por um detector de germânio hiperpuro, fornecendo fatores de correção para utilização dos medidores de tensão não-invasivos no programa de controle de qualidade de equipamentos de raios X, mostrando a necessidade de calibração e controle periódico.

Long-term X-ray variability of the microquasar system LS5039/RX J1826.2-1450

We report on the results of the spectral and timing analysis of a BeppoSAX observation of the microquasar system LS 5039/RX J1826.2-1450. The source was found in a low-flux state with Fx(1-10 keV)= 4.7 x 10^{-12} erg cm^{-2} s^{-1}, which represents almost one order of magnitude lower than a previous RXTE observation 2.5 years before. The 0.1--10 keV spectrum is described by an absorbed power-law continuum with photon-number spectral index Gamma=1.8+-0.2 and hydrogen column density of NH=1.0^{+0.4}_{-0.3} x 10^{22} cm^{-2}. According to the orbital parameters of the system the BeppoSAX observation covers the time of an X-ray eclipse should one occur. However, the 1.6-10 keV light curve does not show evidence for such an event, which allows us to give an upper limit to the inclination of the system. The low X-ray flux detected during this observation is interpreted as a decrease in the mass accretion rate onto the compact object due to a decrease in the mass-loss rate from the primary.

Alterations of Na, K and Rb concentrations in Mycenaean pottery and a proposed explanation using X-ray diffraction

One of the most important reference groups for Mycenaean pottery is the Mycenae/Berbati (MB). In several studies, a second group has been identified (MBKR). The chemical compositions were similar to MB, but with important differences in the Na, K and Rb contents. The present study suggests that these differences are due to selective alteration and contamination processes that are indirectly determined by the original firing temperature. Therefore, groups MB and MBKR should be considered as a single reference group.

Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome.

The Fragile X mental retardation protein (FMRP) regulates neuronal RNA metabolism, and its absence or mutations leads to the Fragile X syndrome (FXS). The β-amyloid precursor protein (APP) is involved in Alzheimer's disease, plays a role in synapse formation, and is upregulated in intellectual disabilities. Here, we show that during mouse synaptogenesis and in human FXS fibroblasts, a dual dysregulation of APP and the α-secretase ADAM10 leads to the production of an excess of soluble APPα (sAPPα). In FXS, sAPPα signals through the metabotropic receptor that, activating the MAP kinase pathway, leads to synaptic and behavioral deficits. Modulation of ADAM10 activity in FXS reduces sAPPα levels, restoring translational control, synaptic morphology, and behavioral plasticity. Thus, proper control of ADAM10-mediated APP processing during a specific developmental postnatal stage is crucial for healthy spine formation and function(s). Downregulation of ADAM10 activity at synapses may be an effective strategy for ameliorating FXS phenotypes.

Aplicação de metodologia dosimétrica de feixes terapêuticos de raios X com sistema Tandem

Um sistema Tandem, constituído por um par de câmaras de ionização comerciais (uma cilíndrica e uma de placas paralelas), foi estabelecido para aplicação em instituição hospitalar, em substituição ao procedimento convencional de determinação de camadas semi-redutoras utilizando-se absorvedores. Os resultados obtidos mostram a possibilidade de utilização deste sistema em procedimentos de dosimetria para os feixes de ortovoltagem utilizados em radioterapia, como complemento de um programa de controle de qualidade.

Histiocitose x (síndrome de hand-schuller-christian): relato de caso

Os autores relatam o caso de uma criança do sexo feminino, quatro anos de idade, que apresentava cefaléia, irritabilidade, otorréia e exoftalmia unilateral. No estudo tomográfico e na radiologia convencional encontraram-se grandes áreas líticas no crânio e na sua base. O restante do esqueleto não evidenciou anormalidades. O diagnóstico de histiocitose X (síndrome de Hand-Schuller-Christian) foi confirmado pelo mielograma. Este estudo mostra achados radiológicos e citológicos, além de apresentar uma revisão da literatura sobre o caso.

Investigating ferromagnetism and charge order in Bi1-xSrxMnO3(x<0.3)ceramic oxides.

The possible coexistence of ferromagnetism and charge/orbital order in Bi3/4Sr1/4MnO3 has been investigated. The manganite Bi0.75Sr0.25MnO3, with commensurate charge balance, undergoes an electronic transition at TCO~600 K that produces a longrange modulation with double periodicity along a and c axis, and unusual anisotropic evolution of the lattice parameters. The previously proposed ferromagnetic properties of this new ordered phase were studied by magnetometry and diffraction techniques. In zero field the magnetic structure is globally antiferromagnetic, ruling out the apparition of spontaneous ferromagnetism. However, the application of magnetic fields produces a continuous progressive canting of the moments, inducing a ferromagnetic phase even for relatively small fields (H<<1 T). Application of pulsed high fields produces a remarkable and reversible spin polarization (under 30 T, the ferromagnetic moment is ~3 ¿B/Mn, without any sign of charge order melting). The coexistence of ferromagnetism and charge order at low and very-high fields is a remarkable property of this system.

Influência do procedimento radiográfico na dose de entrada na pele de pacientes em raios-X pediátricos

OBJETIVO: Este trabalho tem como objetivo discutir os efeitos dos principais parâmetros que interferem na qualidade da imagem e na dose de entrada na pele do paciente. MATERIAIS E MÉTODOS: Foram acompanhadas radiografias pediátricas de tórax em três instituições. Em cada uma delas foram feitos testes de desempenho dos equipamentos de raios-X utilizados. A avaliação da dose de entrada na pele foi feita com a utilização de dosímetros termoluminescentes. RESULTADOS: Apenas um dos equipamentos de raios-X testados mostrou-se em condições aceitáveis de funcionamento. Os valores médios de dose de entrada na pele para os exames investigados, em função da faixa etária, foram: (0,222 ± 0,088) mGy para menores de 1 ano, (0,28 ± 0,11) mGy entre 1,1 e 4 anos, (0,26 ± 0,13) mGy entre 4,1 e 6 anos, (0,23 ± 0,13) mGy entre 6,1 e 10 anos e (0,26 ± 0,25) mGy para maiores de 10 anos. CONCLUSÃO: Os valores médios de dose de entrada na pele são bastante elevados se comparados aos níveis de referência adotados pela Comissão da Comunidade Européia e aos demais resultados encontrados na literatura pesquisada. Recomenda-se a implantação de programas de garantia de qualidade para a redução da dose-paciente com a obtenção de imagens com qualidade para o diagnóstico.

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.

BACKGROUND: Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority of POI cases is not yet identified, several data suggest that POI has a strong genetic component. Conventional cytogenetic and molecular analyses have identified regions of the X chromosome that are associated with ovarian function, as well as POI candidate genes, such as FMR1 and DIAPH2. Here we describe a 10.5-year-old girl presenting with high FSH and luteinizing hormone (LH) levels, pathologic GH stimulation arginine and clonidine tests, short stature, pterygium, ovarian dysgenesis, hirsutism and POI. RESULTS: Cytogenetic analysis demonstrated a balanced reciprocal translocation between the q arms of chromosomes X and 1, with breakpoints falling in Xq21 and 1q41 bands. Molecular studies did not unravel any chromosome microdeletion/microduplication, and no XIST-mediated inactivation was found on the derivative chromosome 1. Interestingly, through immunofluorescence assays, we found that part of the Xq21q22 trait, translocated to chromosome 1q41, was late replicating and therefore possibly inactivated in 30 % metaphases both in lymphocytes and skin fibroblasts, in addition to a skewed 100 % inactivation of the normal X chromosome. These findings suggest that a dysregulation of gene expression might occur in this region. Two genes mapping to the Xq translocated region, namely DIAPH2 and FMR1, were found overexpressed if compared with controls. CONCLUSIONS: We report a case in which gonadal dysgenesis and POI are associated with over-expression of DIAPH2 gene and of FMR1 gene in wild type form. We hypothesize that this over-expression is possibly due to a phenomenon known as "chromosomal position effect", which accounts for gene expression variations depending on their localization within the nucleus. For the same effect a double mosaic inactivation of genes mapping to the Xq21-q22 region, demonstrated by immunofluorescence assays, may be the cause of a functional Xq partial monosomy leading to most Turner traits of the proband's phenotype.

Sex-Chromosome Homomorphy in Palearctic Tree Frogs Results from Both Turnovers and X-Y Recombination.

Contrasting with birds and mammals, poikilothermic vertebrates often have homomorphic sex chromosomes, possibly resulting from high rates of sex-chromosome turnovers and/or occasional X-Y recombination. Strong support for the latter mechanism was provided by four species of European tree frogs, which inherited from a common ancestor (∼5 Ma) the same pair of homomorphic sex chromosomes (linkage group 1, LG1), harboring the candidate sex-determining gene Dmrt1. Here, we test sex linkage of LG1 across six additional species of the Eurasian Hyla radiation with divergence times ranging from 6 to 40 Ma. LG1 turns out to be sex linked in six of nine resolved cases. Mapping the patterns of sex linkage to the Hyla phylogeny reveals several transitions in sex-determination systems within the last 10 My, including one switch in heterogamety. Phylogenetic trees of DNA sequences along LG1 are consistent with occasional X-Y recombination in all species where LG1 is sex linked. These patterns argue against one of the main potential causes for turnovers, namely the accumulation of deleterious mutations on nonrecombining chromosomes. Sibship analyses show that LG1 recombination is strongly reduced in males from most species investigated, including some in which it is autosomal. Intrinsically low male recombination might facilitate the evolution of male heterogamety, and the presence of important genes from the sex-determination cascade might predispose LG1 to become a sex chromosome.

Redução de dose e aumento na vida útil do tubo de raios X em tomografia computadorizada

OBJETIVO: Reduzir a dose de radiação e aumentar a vida útil do tubo de raios X em exames de tomografia computadorizada. MATERIAIS E MÉTODOS: Foram avaliados exames de crânio, abdome superior e tórax. Foi verificado se a técnica utilizada poderia ser alterada, foram sugeridos novos protocolos, e feitas comparações de qualidade da imagem, dose de radiação e aquecimento do tubo de raios X. RESULTADOS: Uma redução no mAs pôde ser feita sem comprometer a qualidade do diagnóstico, proporcionando redução de até 20% na dose média dos exames de crânio em adultos e de até 45% em crianças com idade de 0 a 6 meses; pacientes com menos de 50 kg tiveram redução de aproximadamente 37% na dose média de radiação para os exames de abdome superior; para o exame de tórax de rotina a redução chegou a 54%. O aquecimento do tubo de raios X para os exames de crânio, abdome superior e tórax teve redução estimada em aproximadamente 13%, 23% e 41%, respectivamente. CONCLUSÃO: Uma alteração nos protocolos dos exames descritos acarretará diminuição significativa na dose de radiação e aumento na vida útil do tubo de raios X, sem comprometer o diagnóstico.