Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. Analysis of five families with acheiropodia, by means of 15 polymorphic markers, narrowed the critical region to 1.3 cM, on the basis of identity by descent, and to <0.5 Mb, on the basis of physical mapping. Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. The deletion was identified at both the genomic-DNA and mRNA level. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.

Relationship between lower-limb muscle strength and frailty among elderly people

CONTEXTO E OBJETIVO: A sarcopenia é o principal fator envolvido no desenvolvimento da síndrome de fragilidade. O objetivo foi investigar a relação entre força muscular de membros inferiores e as variáveis sexo, idade e critérios de fragilidade; comparar a força muscular de membros inferiores com cada critério de fragilidade e verificar seu poder de estimativa do risco para fragilidade em idosos ambulatoriais. TIPO DE ESTUDO E LOCAL: Estudo transversal no Ambulatório de Geriatria de um hospital universitário de Campinas. MÉTODO: Foi avaliada uma amostra de conveniência não-probabilística de 150 idosos de ambos os sexos em acompanhamento ambulatorial, com coleta de dados sócio-demográficos (sexo e idade) e de saúde física (critérios de fragilidade e teste de levantar e sentar da cadeira cinco vezes consecutivamente). Foram realizadas análises descritivas, de comparação e de regressão logística multivariada. RESULTADOS: A maioria dos idosos (77,3%) apresentou idade igual ou superior a 70 anos, com predomínio do sexo feminino (64,0%) e baixo escore no teste de levantar e sentar da cadeira cinco vezes consecutivas (81,4% escore 0 ou 1), 55,3% dos idosos apresentaram três ou mais critérios de fragilidade. Verificou-se associação significativa entre a força muscular de membros inferiores e as variáveis idade e número de critérios de fragilidade. CONCLUSÕES: Menores níveis de força muscular de membros inferiores estão associados a idade avançada e maior presença de sinais de fragilidade. Além disso, a força muscular de membros inferiores também está associada com os critérios redução da velocidade de marcha e da força de preensão palmar.

An explanatory mechanism for the different decline in limb strength in older women

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae

Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, Prader-Willi syndrome and neurofibromatosis type 1 (NF1). The most important complication of ectropion uveae is congenital or juvenile glaucoma. We described a patient with ectropion and the mutation R1748X in the NF1 gene. This is the third report in the literature describing ectropion associated with neurofibromatosis. If this association is confirmed by other authors, the NF1 patients should be examined for the presence of ectropion and, consequently, for the development of glaucoma. Copyright (C) 2004 S. Karger AG, Basel.

Co-orbital satellites of Saturn: congenital formation

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Anomaly-free constraints in neutrino seesaw models

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

NOLEN-SCHIFFER ANOMALY AND RHO(0)-OMEGA MIXING

The Nolen-Schiffer anomaly is the long standing discrepancy between theory and experiment of binding energy differences of mirror nuclei. It appears that the anomaly is largely explained by the charge symmetry breaking force generated by the rho(0)-omega mixing. In this paper I discuss the effect of the rho(0)-omega mixing to the binding energy differences in relativistic models of the nucleus. I also discuss the issue of momentum dependence of rho(0)-omega mixing amplitude and present an alternative explanation of the anomaly based on the partial restoration of chiral symmetry in the nucleus.

A model for the Schottky anomaly in metallic Nd2-yCeyCuO4

We present a simple model for the doped compound Nd2-yCevCuO4, in order to explain some recent experimental results on the latter. Within a Hartree-Fock context, we start from an impurity Anderson-like model and consider the magnetic splitting of the Nd-4f ground state Kramers doublet due to exchange interactions with the ordered Cu moments. Our results are in very good agreement with the experimental data, yielding a Schottky anomaly peak for the specific heat that reduces its amplitude, broadens and shifts to lower temperatures, upon Ce doping. For overdoped compounds at low temperatures, the specific heat behaves linearly and the magnetic susceptibility is constant. A smooth transition from this Fermi liquid-like behavior occurs as temperature is increased and, at high temperatures, the susceptibility exhibits a Curie-like behavior. Finally, we discuss some improvements our model is amenable to incorporate, (C) 1998 Elsevier B.V. B.V. All rights reserved.

Unusual early morning development of the equatorial anomaly in the Brazilian sector during the Halloween magnetic storm

The solar events that occurred at the end of October 2003 gave rise to very strong geomagnetic disturbances that peaked twice with Dst values reaching -345 nT around 0000 UT on 30 October and -400 nT around 2300 UT, on the same day. Disturbances in several ionospheric parameters were observed over Brazil. This work will focus on the ionospheric response to the initial westward prompt penetration electric field and on the strong intensification of the equatorial ionization anomaly that occurred because of the electric field polarity reversal that followed in the early morning hours of 29 October. The F layer peak height over the equator first decreased under the strong prompt penetration westward electric field, which was followed by significant height increase under eastward electric field. We have used Sheffield University Plasmasphere Ionosphere Model (SUPIM) with an intensified westward disturbed electric field in the presunrise hours, presumably due to prompt penetration from the magnetosphere, in order to study the effect of such a field in the ionosphere. The simulation results showed that prompt penetration of magnetospheric electric fields of westward polarity to the nightside equatorial region seems to be the most probable cause of the initial F layer height decreases. The intensification of the equatorial ionization anomaly and the unusual enhancement on F layer peak density, which was not modeled by the SUPIM, are explained as caused by the strong eastward electric field that followed the initial phase in combination with a highly variable disturbed meridional/transequatorial wind system as inferred from the F2 layer peak height variations. The highly dynamic wind pattern, with a short-term response (2-4 hours), is compatible with the predictions of some previous theoretical model calculations reported in the literature.