A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.

Narcolepsy is a rare sleep disorder characterized by excessive daytime sleepiness and cataplexy. Familial narcolepsy accounts for less than 10% of all narcolepsy cases. However, documented multiplex families are very rare and causative mutations have not been identified to date. To identify a causative mutation in familial narcolepsy, we performed linkage analysis in the largest ever reported family, which has 12 affected members, and sequenced coding regions of the genome (exome sequencing) of three affected members with narcolepsy and cataplexy. We successfully mapped a candidate locus on chromosomal region 6p22.1 (LOD score ¼ 3.85) by linkage analysis. Exome sequencing identified a missense mutation in the second exon of MOG within the linkage region. A c.398C>G mutation was present in all affected family members but absent in unaffected members and 775 unrelated control subjects. Transient expression of mutant myelin oligodendrocyte glycoprotein (MOG) in mouse oligodendrocytes showed abnormal subcellular localization, suggesting an altered function of the mutant MOG. MOG has recently been linked to various neuropsychiatric disorders and is considered as a key autoantigen in multiple sclerosis and in its animal model, experimental autoimmune encephalitis. Our finding of a pathogenic MOG mutation highlights a major role for myelin and oligodendrocytes in narcolepsy and further emphasizes glial involvement in neurodegeneration and neurobehavioral disorders. [corrected].

I just ran four million regressions

In this paper I try to move away from the Extreme Bounds method ofidentifying ``robust'' empirical relations in the economic growth literature.Instead of analyzing the extreme bounds of the estimates of the coefficientof a particular variable, I analyze the entire distribution. My claimin this paper is that, if we do this, the picture emerging from theempirical growth literature is not the pessimistic ``Nothing is Robust''that we get with the extreme bound analysis. Instead, we find that asubstantial number of variables can be found to be strongly relatedto growth.

Consumer Advisory Bulletin, Rapid Tax-Refund Loans A very costly way to gain just a few days on tax refunds, January 2008

The Attorney General’s Consumer Protection Division receives hundreds of calls and consumer complaints every year. Follow these tips to avoid unexpected expense and disappointments. This record is about: Rapid Tax-Refund Loans A very costly way to gain just a few days on tax refunds.

Invasive candidiasis as a cause of sepsis in the critically ill patient.

Invasive fungal infections are an increasingly frequent etiology of sepsis in critically ill patients causing substantial morbidity and mortality. Candida species are by far the predominant agent of fungal sepsis accounting for 10% to 15% of health-care associated infections, about 5% of all cases of severe sepsis and septic shock and are the fourth most common bloodstream isolates in the United States. One-third of all episodes of candidemia occur in the intensive care setting. Early diagnosis of invasive candidiasis is critical in order to initiate antifungal agents promptly. Delay in the administration of appropriate therapy increases mortality. Unfortunately, risk factors, clinical and radiological manifestations are quite unspecific and conventional culture methods are suboptimal. Non-culture based methods (such as mannan, anti-mannan, β-d-glucan, and polymerase chain reaction) have emerged but remain investigational or require additional testing in the ICU setting. Few prophylactic or pre-emptive studies have been performed in critically ill patients. They tended to be underpowered and their clinical usefulness remains to be established under most circumstances. The antifungal armamentarium has expanded considerably with the advent of lipid formulations of amphotericin B, the newest triazoles and the echinocandins. Clinical trials have shown that the triazoles and echinocandins are efficacious and well tolerated antifungal therapies. Clinical practice guidelines for the management of invasive candidiasis have been published by the European Society for Clinical Microbiology and Infectious Diseases and the Infectious Diseases Society of North America.

O Erro, uma Análise Necessária: sua Implicação no Ensino da Língua Portuguesa em Cabo Verde

O trabalho de investigação que ora se apresenta entronca nas preocupações do dia a dia enquanto profissional e dirigente da educação que tem experimentado e acompanhado de perto a prática pedagógica e docente. Por esses imperativos, senti-me na obrigação de procurar uma resposta, refletir sobre as dificuldades do ensino da língua portuguesa e perceber melhor esses obstáculos, nomeadamente o erro linguístico nas práticas letivas, as causas subjacentes e, eventualmente, a quota-parte de responsabilidades dos outros intervenientes no processo, nomeadamente, dos professores de língua portuguesa e do próprio sistema. Nesta sequência, o presente estudo aborda o erro como conceito, marcado pela polissemia da sua definição, abordado pelas múltiplas metodologias de ensino, mas também como elemento central no ensino e aprendizagem de uma língua segunda, no ensino básico, em contextos de coabitação de línguas muito próximas como o português e a língua cabo-verdiana; pretendemos também elencar os procedimentos e atitudes dos atores no processo, bem como os meios didático-pedagógicos essenciais com vista a sua deteção, análise e tratamento do mesmo. A aprendizagem de uma língua segunda como o português, num contexto como o de Cabo Verde, constitui uma tarefa complexa e por vezes demorada, que não pode ser resumida a atos corriqueiros e previsíveis de sala de aula, ignorando as necessidades, disposições e interesses dos aprendentes que são colocados perante uma encruzilhada, o de aprender uma língua que não é sua, mas que não pode recusar. A aparente aproximação entre as duas línguas constitui um obstáculo acrescido, por propiciar a interferência, principal causa do erro, apesar do avanço verificado no desenvolvimento de metodologias e materiais de apoio que auxiliam e tornam mais eficiente o processo de aquisição de uma língua segunda. Para operacionalização do assunto foi elaborado um estudo com recurso à análise de erros, em quarenta e um (41) textos produzidos por alunos do 6.º ano de escolaridade de cinco escolas do ensino básico do Tarrafal, Cabo Verde, com o intuito de recolher informações, analisá-las e, após uma reflexão sobre os resultados, concluir sobre as suas implicações no ensino aprendizagem da língua portuguesa.

Une dyspnée pas comme les autres, ou quand on parle du loup.. [Unusual cause for a dyspnea.].

We report the case of a patient presenting with late onset systemic lupus erythematosus presenting as a haemolytic anemia and pleuritis. We describe the clinical features, diagnosis, prognosis and treatment of the disease with special focus on haematological and pulmonary involvement.

When rare is just a matter of sampling: unexpected dominance of clubtail dragonflies (Odonata, Gomphidae) through different collecting methods at Parque Nacional da Serra do Cipó, Minas Gerais State, Brazil

When rare is just a matter of sampling: Unexpected dominance of clubtail dragonflies (Odonata, Gomphidae) through different collecting methods at Parque Nacional da Serra do Cipó, Minas Gerais State, Brazil. Capture of dragonfly adults during two short expeditions to Parque Nacional da Serra do Cipó, Minas Gerais State, using three distinct collecting methodsaerial nets, Malaise and light sheet trapsis reported. The results are outstanding due the high number of species of Gomphidae (7 out of 26 Odonata species), including a new species of Cyanogomphus Selys, 1873, obtained by two non-traditional collecting methods. Because active collecting with aerial nets is the standard approach for dragonfly inventories, we discuss some aspects of the use of traps, comparing our results with those in the literature, suggesting they should be used as complementary methods in faunistic studies. Furthermore, Zonophora campanulata annulata Belle, 1983 is recorded for the first time from Minas Gerais State and taxonomic notes about Phyllogomphoides regularis (Selys, 1873) and Progomphus complicatus Selys, 1854 are also given.

Just the Facts for 2007

There are 19,964 full-time employees who work for the State of Iowa Executive Branch (excluding Fair Authority, Community-Based Corrections, and the Regents employees). These employees are undoubtedly the most valuable resource for providing timely and quality services to Iowans. To strategically manage this resource, state departments and policymakers must have thorough and accurate information. The information in “Just the Facts for 2007” is a snapshot of the workforce, collected, compiled, and presented in a format that will aid agencies and decision makers in strategic planning and workforce planning. In many cases, data cover a number of years and are presented to give the reader a sense of trends. While the Department of Administrative Services wants to present data in its purest form so readers can draw their own conclusions, we also have a responsibility to clarify anything that may be confusing or misleading. It is important to highlight workforce trends and explain their significance to the work of Iowa state government. The following chapter summaries are intended to do that.

Just the Facts for 2008

There are 20,552 full-time employees who work for the State of Iowa Executive Branch (excluding Fair Authority, Community-Based Corrections, and the Regents employees). These employees are undoubtedly the most valuable resource for providing timely and quality services to Iowans. To strategically manage this resource, state departments and policymakers must have thorough and accurate information. The information in “Just the Facts for 2008” is a snapshot of the workforce, collected, compiled, and presented in a format that will aid agencies and decision makers in strategic planning. In many cases, data cover a number of years and are presented to give the reader a sense of trends. While the Department of Administrative Services, Human Resource Enterprise (DAS/HRE) wants to present data in its purest form so readers can draw their own conclusions, we also have a responsibility to clarify anything that may be confusing or misleading. It is important to highlight workforce trends and explain their significance to the work of Iowa state government. The following chapter summaries are intended to do that.

Just the Facts for 2002

Almost 19,000 employees work for the State of Iowa Executive Branch (excluding Fair Authority, Community-Based Corrections, and the Regents employees). These employees are undoubtedly the most valuable resource for providing timely and quality services to Iowans. To strategically manage this resource, State departments and policymakers must have thorough and accurate information. The information in “Just the Facts for 2002” is a snapshot of the workforce, collected, compiled, and presented in a format that will aid agencies and decision makers in strategic planning. In many cases, data cover a number of years and are presented to give the reader a sense of trends. While the Department of Personnel wants to present data in its purist form so readers can draw their own conclusions, we also have a responsibility to clarify anything that may be confusing or misleading . It is important to highlight workforce trends and explain their significance to the work of Iowa state government.

Just the Facts for 2003

Almost 19,000 employees work for the State of Iowa Executive Branch (excluding Fair Authority, Community-Based Corrections, and the Regents employees). These employees are undoubtedly the most valuable resource for providing timely and quality services to Iowans. To strategically manage this resource, State departments and policymakers must have thorough and accurate information. The information in “Just the Facts for 2003” is a snapshot of the workforce, collected, compiled, and presented in a format that will aid agencies and decision makers in strategic planning. In many cases, data cover a number of years and are presented to give the reader a sense of trends. While the Department of Personnel wants to present data in its purist form so readers can draw their own conclusions, we also have a responsibility to clarify anything that may be confusing or misleading . It is important to highlight workforce trends and explain their significance to the work of Iowa state government.

Just the Facts for 2005

Almost 19,000 employees work for the State of Iowa Executive Branch (excluding Fair Authority, Community-Based Corrections, and the Regents employees). These employees are undoubtedly the most valuable resource for providing timely and quality services to Iowans. To strategically manage this resource, State departments and policymakers must have thorough and accurate information. The information in “Just the Facts for 2005” is a snapshot of the workforce, collected, compiled, and presented in a format that will aid agencies and decision makers in strategic planning. In many cases, data cover a number of years and are presented to give the reader a sense of trends. While the Department of Personnel wants to present data in its purist form so readers can draw their own conclusions, we also have a responsibility to clarify anything that may be confusing or misleading . It is important to highlight workforce trends and explain their significance to the work of Iowa state government.

Just the Facts for 2006

Almost 19,000 employees work for the State of Iowa Executive Branch (excluding Fair Authority, Community-Based Corrections, and the Regents employees). These employees are undoubtedly the most valuable resource for providing timely and quality services to Iowans. To strategically manage this resource, State departments and policymakers must have thorough and accurate information. The information in “Just the Facts for 2006” is a snapshot of the workforce, collected, compiled, and presented in a format that will aid agencies and decision makers in strategic planning. In many cases, data cover a number of years and are presented to give the reader a sense of trends. While the Department of Personnel wants to present data in its purist form so readers can draw their own conclusions, we also have a responsibility to clarify anything that may be confusing or misleading . It is important to highlight workforce trends and explain their significance to the work of Iowa state government.