An Illustrative Case Of Léri-weill Dyschondrosteosis

We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity for microsatellite markdrs SHOX-CA repeat, DXYS10092, DXYS10093 and DXYS10091 localized around the SHOX gene, with retention of paternal alleles in the proband and three of her sisters who had short stature as the only clinical feature. Hemizygosity for these loci was also observed in their mother, who had short stature too. The deletion in the proband was however larger, including locus DXY 10083. The proband's only sister with normal height did not carry the deletion. Family history suggests transmission of the deletion from the proband's maternal great-grandfather to her grandfather via the Y chromosome, and from the grandfather to the proband's mother via the X chromosome after crossing-over in the pseudoautosomal region proximal to the SHOX gene. Copyright © 2008, Sociedade Brasileira de Genética.314839842Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Cormier-Daire, V., SHOX mutations in dyschondrosteosis (Léri-Weill syndrome) (1998) Nat Genet, 19, pp. 67-69Benito-Sanz, S., del Blanco, D.G., Aza-Carmona, M., Magano, L.F., Lapunzina, P., Argente, J., Campos-Barros, A., Heath, K.E., PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands (2006) Hum Mutat, 27, p. 1062Benito-Sanz, S., del Blanco, D.G., Huber, C., Thomas, N.S., Aza-Carmona, M., Bunyan, B., Maloney, V., Campos-Barros, A., Characterization of SHOX deletions in Léri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots (2006) Am J Hum Genet, 79, pp. 409-412Benito-Sanz, S., Thomas, N.S., Huber, C., Gorbenko del Blanco, D., Aza-Carmona, M., Crolla, J.A., Maloney, V., Campos-Barros, A., A novel class of pseudoautosomal region 1 deletions downstream of SHOX Is associated with Léri-Weill dyschondrosteosis (2005) Am J Hum Genet, 77, pp. 533-544Clement-Jones, M., Schiller, S., Rao, E., Blaschke, R.J., Zuniga, A., Zeller, R., Robson, S.C., Strachan, T., The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome (2000) Hum Mol Genet, 9, pp. 695-702Ellison, J.W., Wardak, Z., Young, M.F., Gehron Robey, P., Laig-Webster, M., Chiong, W., PHOG, a candidate gene for involvement in the short stature of Turner syndrome (1997) Hum Mol Genet, 6, pp. 1341-1347Filatov, D.A., Gerrard, D.T., High mutation rates in human and ape pseudoautosomal genes (2003) Gene, 317, pp. 67-77Fukami, M., Kato, F., Tajima, T., Yokoya, S., Ogata, T., Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3′ region: Implication for the downstream enhancer (2006) Am J Hum Genet, 78, pp. 167-170Henry, A., Thorburn, M.J., Madelung's deformity. A clinical and cytogenetic study (1967) J Bone Joint Surg, 49 B, pp. 66-73Jorge, A.A., Souza, S.C., Nishi, M.Y., Billerbeck, A.E., Liborio, D.C., Kim, C.A., Arnhold, I.J., Mendonca, B.B., SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: Frequency and phenotypic variability (2007) Clin Endocrinol, 66, pp. 130-135Lien, S., Szyda, J., Schechinger, B., Rappold, G., Arnheim, N., Evidence for heterogeneity in recombination in the human pseudoautosomal region: High resolution analysis by sperm typing and radiation-hybrid mapping (2000) Am J Hum Genet, 66, pp. 557-566Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Winkelmann, M., Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome (1997) Nat Genet, 16, pp. 54-63Rappold, G., Blum, W.F., Shavrikova, E.P., Crowe, B.J., Roeth, R., Quigley, C.A., Ross, J.L., Niesler, B., Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency (2007) J Med Genet, 44, pp. 306-313Rappold, G.A., Fukami, M., Niesler, B., Schiller, S., Zumkeller, W., Bettendorf, M., Heinrich, U., Onigata, K., Deletions of the homeobox gene SHOX(short stature homeobox) are an important cause of growth failure in children with short stature (2002) J Clin Endocrinol Metab, 87, pp. 1402-1406Schneider, K.U., Sabherwal, N., Jantz, K., Röth, R., Muncke, N., Blum, W.F., Cutler Jr, G.B., Rappold, G., Identification of major raombinant hotspot in patients with short stature and SHOX deficiency (2005) Am J Hum Genet, 77, pp. 89-96Shears, D.J., Vassal, H.J., Goodman, F.R., Palmer, R.W., Reardon, W., Superti-Furga, A., Scambler, P.J., Winter, R.M., Mutation and deletion of the pseudoautosomal gene SHOX cause Léri-Weill dyschondrosteosis (1998) Nat Genet, 19, pp. 70-72Zebala, L.P., Manske, P.R., Goldfarb, C.A., (200't) Madelung's deformity: A spectrum of presentation.. The J Hand Surg, 32 A, pp. 1393-1401Zinn, A.R., Ramos, P., Ross, J., (1006) A second recombination hotspot associated with SHOX deletions Am J Hum Genet, 78, pp. 523-52

In silico before in vivo: How to predict the heating efficiency of magnetic nanoparticles within the intracellular space

This work aims to demonstrate the need for in silico design via numerical simulation to produce optimal Fe 3 O 4 -based magnetic nanoparticles (MNPs) for magnetic hyperthermia by minimizing the impact of intracellular environments on heating efficiency. By including the relevant magnetic parameters, such as magnetic anisotropy and dipolar interactions, into a numerical model, the heating efficiency of as prepared colloids was preserved in the intracellular environment, providing the largest in vitro specific power absorption (SPA) values yet reported. Dipolar interactions due to intracellular agglomeration, which are included in the simulated SPA, were found to be the main cause of changes in the magnetic relaxation dynamics of MNPs under in vitro conditions. These results pave the way for the magnetism-based design of MNPs that can retain their heating efficiency in vivo, thereby improving the outcome of clinical hyperthermia experiments

Prevalência de enteroparasitoses em crianças de creches públicas da cidade de Belo Horizonte, Minas Gerais, Brasil

The objective of this study was to verify the occurrence of intestinal parasites in 3 to 6-year-old children from daycare centers maintained by the municipal government of Belo Horizonte, Minas Gerais, Brazil. Coproparasitological tests performed in 472 children have shown that 24.6% of them had some type of parasites, 6.6% of the children having more than one type. Among protozoa, Entamoeba coli (14.0%) and G. duodenalis (9.5%) were the most prevalent, whereas Ascaris lumbricoides (3.0%) and Trichuris trichiura (1.1%) were the most frequent among the helminths. Thus, we can observe that intestinal parasites still represent a serious public health problem in Belo Horizonte, especially among children and in areas where the socioeconomic conditions are less favorable.O objetivo deste trabalho foi verificar a ocorrência de parasitos intestinais em crianças de 3 a 6 anos de idade, oriundas de creches mantidas pela Prefeitura Municipal de Belo Horizonte, Minas Gerais, Brasil. Exames coproparasitológicos realizados em 472 crianças demonstraram que 24,6% apresentavam algum tipo de parasitose, sendo que 6,6% apresentavam mais de um parasito. Entre os protozoários, Entamoeba coli (14,0%) e G. duodenalis (9,5%) foram os mais prevalentes, enquanto Ascaris lumbricoides (3,0%) e Trichuris trichiura (1,1%) foram os mais encontrados entre os helmintos. Desta forma, observa-se que as parasitoses intestinais ainda são um problema de saúde pública em Belo Horizonte, principalmente entre a população infantil e em áreas onde as condições sócio-econômicas são menos favoráveis

Oferta alimentar de menus infantis em restaurantes de centros comerciais portugueses: estudo qualitativo

Introdução: O consumo de alimentos fora de casa aumentou e as famílias usam habitualmente os centros comerciais para realizar estas refeições. Os menus infantis disponíveis nos restaurantes são caracterizados por conterem alimentos com elevada densidade energética, ricos em gordura, gordura saturada, ácidos gordos trans e sódio e por uma oferta reduzida de hortícolas e fruta e de alimentos fornecedores de hidratos de carbono complexos, fontes alimentares de fibra e de vários micronutrientes. Objetivos: Caracterizar a disponibilidade e a qualidade dos menus infantis nos restaurantes de centros comerciais em Portugal. metodologia: Foi realizado um estudo observacional de desenho transversal realizado em todos os centros comerciais de 6 cidades de Portugal. Para dar resposta aos objetivos propostos foi elaborada uma ferramenta de recolha de dados que incluiu três seções: A: Identificação do restaurante, B: Características do restaurante e C: Características do menu infantil. Resultados: Dos 184 restaurantes diferentes avaliados, apenas 44 disponibilizam menu infantil e, destes, 6 oferecem brindes associados ao mesmo. Os itens mais destacados nos menus são frango assado ou frito (25%), hambúrgueres grelhados ou fritos (25%), nuggets (18%) e pizza (18%). As batatas fritas são as opções mais frequentes de acompanhamento (41%). Apenas 6 restaurantes disponibilizam sopa ou hortícolas adicionados à refeição. Embora a água estivesse disponível, refrigerantes e sumos de frutas açucarados também são opções disponibilizadas. A sobremesa doce é frequentemente disponibilizada no menu. Conclusões: As opções do menu infantil analisadas oferecem alimentos nutricionalmente desadequados e baixa disponibilidade de hortícolas e frutas. Propostas de alterações aos alimentos oferecidos nos menus infantis revela-se uma estratégia importante na promoção de hábitos alimentares mais saudáveis nas crianças.ABSTRACT Introduction: Out-of-home food consumption has increased and families eating out frequently use shopping centres. KidŽs menus available at restaurants are characterized by contain foods with excessive energy, fat, saturated fat, -trans-fatty acids and salt and low vegetables, complex carbohydrate foods, ï¬ bre, and various micronutrients. Objectives: Characterize the availability and quality of kidŽs menus in shopping centre restaurants in Portugal. METHODOLOGY: An observational cross-sectional study was carried out in all shopping centres of 6 cities in Portugal. To answer the purposed aims a data collection tool was developed with three-section parts A: Identiï¬ cation of the restaurant, B: Characteristics of the restaurant and C: Characteristics of the kid's menu. Results: From 184 different restaurants evaluated, only 44 provide a kids menu and from these 6 restaurants offer gifts associated with it. The most frequently featured items on the menu are roast or fried chicken (25%), hamburgers grilled or fried (25%), nuggets (18%) and pizza (18%). Potato chips are the most frequent side dish options (41%). Only 6 restaurants offered vegetable soup or vegetables added to the meal. Although the water was available, soft drinks and sugary fruit juices are also options. Sweet dessert is a common part of the menu. Conclusions: Kids' menu options had poor quality with low availability of fruits and vegetables. Shifting foods offered to children in restaurants have the potential to improve diet quality, reduce excess energy intake and promote healthy eating habits

The relevance of Brownian relaxation as power absorption mechanism in Magnetic Hyperthermia

The Linear Response Theory (LRT) is a widely accepted framework to analyze the power absorption of magnetic nanoparticles for magnetic fluid hyperthermia. Its validity is restricted to low applied fields and/or to highly anisotropic magnetic nanoparticles. Here, we present a systematic experimental analysis and numerical calculations of the specific power absorption for highly anisotropic cobalt ferrite (CoFe 2 O 4 ) magnetic nanoparticles with different average sizes and in different viscous media. The predominance of Brownian relaxation as the origin of the magnetic losses in these particles is established, and the changes of the Specific Power Absorption (SPA) with the viscosity of the carrier liquid are consistent with the LRT approximation. The impact of viscosity on SPA is relevant for the design of MNPs to heat the intracellular medium during in vitro and in vivo experiments. The combined numerical and experimental analyses presented here shed light on the underlying mechanisms that make highly anisotropic MNPs unsuitable for magnetic hyperthermia

Constraining the dark energy with galaxy clusters X-ray data

The equation of state characterizing the dark energy component is constrained by combining Chandra observations of the X-ray luminosity of galaxy clusters with independent measurements of the baryonic matter density and the latest measurements of the Hubble parameter as given by the HST key project. By assuming a spatially flat scenario driven by a "quintessence" component with an equation of state $p_x = \omega \rho_x$ we place the following limits on the cosmological parameters $\omega$ and $\Omega_{\rm{m}}$: (i) $-1 \leq \omega \leq -0.55$ and $\Omega_{\rm m} = 0.32^{+0.027}_{-0.014}$ (1$\sigma$) if the equation of state of the dark energy is restricted to the interval $-1 \leq \omega < 0$ (\emph{usual} quintessence) and (ii) $\omega = -1.29^{+0.686}_{-0.792}$ and $\Omega_{\rm{m}} = 0.31^{+0.037}_{-0.034}$ ($1\sigma$) if $\omega$ violates the null energy condition and assume values $< -1$ (\emph{extended} quintessence or ``phantom'' energy). These results are in good agreement with independent studies based on supernovae observations, large-scale structure and the anisotropies of the cosmic background radiation.Comment: 6 pages, 4 figures, LaTe