A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence.

OBJECTIVES: This study aimed to identify the genetic defect in a family with idiopathic ventricular fibrillation (IVF) manifesting in childhood and adolescence. BACKGROUND: Although sudden cardiac death in the young is rare, it frequently presents as the first clinical manifestation of an underlying inherited arrhythmia syndrome. Gene discovery for IVF is important as it enables the identification of individuals at risk, because except for arrhythmia, IVF does not manifest with identifiable clinical abnormalities. METHODS: Exome sequencing was carried out on 2 family members who were both successfully resuscitated from a cardiac arrest. RESULTS: We characterized a family presenting with a history of ventricular fibrillation (VF) and sudden death without electrocardiographic or echocardiographic abnormalities at rest. Two siblings died suddenly at the ages of 9 and 10 years, and another 2 were resuscitated from out-of-hospital cardiac arrest with documented VF at ages 10 and 16 years, respectively. Exome sequencing identified a missense mutation affecting a highly conserved residue (p.F90L) in the CALM1 gene encoding calmodulin. This mutation was also carried by 1 of the siblings who died suddenly, from whom DNA was available. The mutation was present in the mother and in another sibling, both asymptomatic but displaying a marginally prolonged QT interval during exercise. CONCLUSIONS: We identified a mutation in CALM1 underlying IVF manifesting in childhood and adolescence. The causality of the mutation is supported by previous studies demonstrating that F90 mediates the direct interaction of CaM with target peptides. Our approach highlights the utility of exome sequencing in uncovering the genetic defect even in families with a small number of affected individuals.

[Voyage en Italie : 1824-1830]. , [Musée des Études ?] : [un motif représentant deux biches] : [dessin] / [Henri Labrouste]

Référence bibliographique : Weigert, 266

Ontologia de aplicação no domínio de mortalidade: uma ferramenta de apoio para o preenchimento da declaração de óbitos

Os dados do Sistema de Informação sobre Mortalidade (SIM) representam a principal fonte de informações sobre mortalidade no Brasil, embora apresentem com frequência alguma inconsistência. Um dos principais problemas na geração de dados confiáveis sobre mortalidade no Brasil decorre das dificuldades enfrentadas pelos médicos para o correto preenchimento da Declaração de Óbitos (DO), documento padrão de alimentação de dados para o SIM. O artigo apresenta uma ferramenta de apoio para o correto preenchimento da DO, representada por meio de uma ontologia de aplicação desenvolvida com a participação de profissionais de saúde especialistas no domínio de mortalidade. A ferramenta foi disponibilizada aos médicos da Secretaria Municipal de Saúde e Assistência de Belo Horizonte (SMSA-BH) por meio de um site contendo os termos definidos na ontologia e seus relacionamentos, dispostos numa estrutura taxonômica. A solução proposta tem como objetivo principal auxiliar os médicos em sua tarefa de registrar os óbitos ocorridos, a partir do preenchimento correto da DO.

Iowa Department of Transportation Major Items - Preliminary Quantity Report, May 20, 2014; With Addendums

Weekly letting report.

Herança da tolerância ao alumínio em populações híbridas de trigo

Plântulas originárias de populações híbridas, em geração F2, de 26 cruzamentos entre cultivares de trigo tolerantes (BH-1146, IAC-227, IAC-24, IAC-60, C-3, IAC-5, IAC-18 e IAC-21) e sensíveis (Anahuac 75, IAC-287, IAC-289, Siete Cerros e Veery "S") à toxicidade de alumínio e de 18 cruzamentos entre cultivares tolerantes (BH-1146, IAC-227, IAC-24, IAC-60, C-3, IAC-5, IAC-21, C-17, IAC-74 e IAC-18) foram avaliadas em relação à tolerância a 3 mg/L de Al3+, empregando soluções nutritivas. A tolerância à toxicidade de alumínio foi medida pela capacidade de crescimento da raiz primária central em solução nutritiva completa, após um tratamento de 48 horas em solução contendo 3 mg/L de Al3+. Avaliando-se as plântulas das populações F2 provindas de cruzamentos entre cultivares tolerantes e sensíveis, verificou-se que a tolerância à toxicidade de Al3+ foi dominante, e que em 24 dos cruzamentos, as cultivares tolerantes diferiram das sensíveis por um par de genes. Não foi detectada diferença entre as cultivares tolerantes em relação ao par de genes dominantes em relação à tolerância. Qualquer uma dessas cultivares poderá ser utilizada como fonte de tolerância num programa de cruzamentos em que essa característica for desejada.

Alexithymia and depression in eating disorders.

We compared alexithymia and depression ratings for non-hospitalized women meeting DSM-IV criteria for anorexia nervosa (n=32) and bulimia nervosa (n=32) to ratings for healthy women (n=74). Alexithymia was evaluated by the Toronto Alexithymia Scale (TAS-20) and depression by the Hospital Anxiety and Depression Scale (HAD). TAS and HAD scores were significantly higher in anorexic compared to bulimic patients, although these two scales were significantly and positively correlated (r=0.53, P=0.001). After taking depression into account as a confounding variable, rates of alexithymia did not vary according to the type of eating disorder (anorexia or bulimia).

Fenologia do coqueiro na zona costeira de Pernambuco

O objetivo do trabalho foi estudar a fenologia do coqueiro em duas cultivares (Anão-amarelo, Anão-verde) e um híbrido (PB 121), na Unidade de Execução de Pesquisa de Itapirema, Goiana, PE. Realizaram-se observações semanais das fases vegetativas e reprodutivas de cinco plantas de cada cultivar e do híbrido, durante o período janeiro/96 a janeiro/97. Dados do balanço hídrico foram utilizados para associar a fenologia às disponibilidades hídricas locais. A quantidade de graus-dia variou entre 266 graus-dia, na estação chuvosa, e 350 graus-dia, na estação seca. Determinou-se o quadrante predominante na emissão de inflorescência e a direção do vento. Estabeleceram-se os índices de fecundação das flores e produção dos frutos. A espécie em estudo é uma planta perenifólia. As cultivares e o híbrido produziram cerca de 11 folhas anualmente. Verificaram-se folhas mortas durante todo o período de observação. Houve floração durante todo o ano. As plantas emitem uma inflorescência/mês, ocasionalmente duas (Anão-amarelo e híbrido), no período seco. As cultivares têm o mesmo número de inflorescências emitidas, mas não o mesmo número de inflorescências desenvolvidas. A floração é do tipo cornucópia. Observaram-se frutos em diferentes estádios de desenvolvimento num mesmo espécime e cacho. A direção do vento, assim como o quadrante na emissão de inflorescências estabelecidos foi predominantemente o Sudeste. Houve diferenças significativas entre os tratamentos.

Early diagenesis of bone and tooth apatite in fluvial and marine settings: Constraints from combined oxygen isotope, nitrogen and REE analysis

Fossil bones and teeth of Late Pleistocene terrestrial mammals from Rhine River gravels (RS) and the North Sea (NS), that have been exposed to chemically and isotopically distinct diagenetic fluids (fresh water versus seawater), were investigated to study the effects of early diagenesis on biogenic apatite. Changes in phosphate oxygen isotopic composition (delta O-18(PO4)), nitrogen content (wt.% N) and rare earth element (REE) concentrations were measured along profiles within bones that have not been completely fossilized, and in skeletal tissues (bone, dentine, enamel) with different susceptibilities to diagenetic alteration. Early diagenetic changes of elemental and isotopic compositions of apatite in fossil bone are related to the loss of the stabilizing collagen matrix. The REE concentration is negatively correlated with the nitrogen content, and therefore the amount of collagen provides a sensitive proxy for early diagenetic alteration. REE patterns of RS and NS bones indicate initial fossilization in a fresh water fluid with similar REE compositions. Bones from both settings have nearly collagen-free, REE-, U-, F- and Sr-enriched altered outer rims, while the collagen-bearing bone compacta in the central part often display early diagenetic pyrite void-fillings. However, NS bones exposed to Holocene seawater have outer rim delta O-18(PO4) values that are 1.1 to 2.6 parts per thousand higher compared to the central part of the same bones (delta O-18(PO4) = 18.2 +/- 0.9 parts per thousand, n = 19). Surprisingly, even the collagen-rich bone compacta with low REE contents and apatite crystallinity seems altered, as NS tooth enamel (delta O-18(PO4) =15.0 +/- 0.3 parts per thousand, n=4) has about 3%. lower delta O-18(PO4) values, values that are also similar to those of enamel from RS teeth. Therefore, REE concentration, N content and apatite crystallinity are in this case only poor proxies for the alteration of delta O-18(PO4) values. Seawater exposure of a few years up to 8 kyr can change the delta O-18(PO4) values of the bone apatite by > 3 parts per thousand. Therefore, bones fossilized in marine settings must be treated with caution for palaeoclimatic reconstructions. However, enamel seems to preserve pristine delta O-18(PO4) values on this time scale. Using species-specific calibrations for modern mammals, a mean delta O-18(H2O) value can be reconstructed for Late Pleistocene mammalian drinking water of around -9.2 +/- 0.5 parts per thousand, which is similar to that of Late Pleistocene groundwater from central Europe. (c) 2008 Elsevier B.V. All rights reserved.

Iowa Department of Transportation Major Items - Preliminary Quantity Report, January 21, 2015; With Addendums

Weekly letting report.

Selective resonance suppression 1H-[13C] NMR spectroscopy with asymmetric adiabatic RF pulses.

Despite obvious improvements in spectral resolution at high magnetic field, the detection of 13C labeling by 1H-[13C] NMR spectroscopy remains hampered by spectral overlap, such as in the spectral region of 1H resonances bound to C3 of glutamate (Glu) and glutamine (Gln), and C6 of N-acetylaspartate (NAA). The aim of this study was to develop, implement, and apply a novel 1H-[13C] NMR spectroscopic editing scheme, dubbed "selective Resonance suppression by Adiabatic Carbon Editing and Decoupling single-voxel STimulated Echo Acquisition Mode" (RACED-STEAM). The sequence is based on the application of two asymmetric narrow-transition-band adiabatic RF inversion pulses at the resonance frequency of the 13C coupled to the protons that need to be suppressed during the mixing time (TM) period, alternating the inversion band downfield and upfield from the 13C resonance on odd and even scans, respectively, thus suppressing the detection of 1H resonances bound to 13C within the transition band of the inversion pulse. The results demonstrate the efficient suppression of 1H resonances bound to C3 of Glu and Gln, and C4 of Glu, which allows the 1H resonances bound to C6 of NAA and C4 of Gln to be revealed. The measured time course of the resolved labeling into NAA C6 with the new scheme was consistent with the slow turnover of NAA.