COEXISTENCE OF TWO CHRONIC NEUROPATHIES IN A YOUNG CHILD: CHARCOT-MARIE-TOOTH DISEASE TYPE 1A AND CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/ or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A. Muscle Nerve 42: 598-600, 2010

Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes

Compound forms of Charcot-Marie-Tooth (CMT) disease have been recently associated with unusually severe neuropathies, an observation that prompted the proposition that the additive effects of two mutations should be searched in patients whose clinical severity falls outside the common CMT phenotypes. In this report, we present a father and a daughter with a very mild and unusual disease that segregates with two mutations in PMP22 gene, the 17p11.2-p12 duplication and a Ser72Leu point mutation. We propose that the deleterious effects of each mutation are partially compensated by the functional effect of the other.

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2

Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot Marie Tooth disease (CMT). The aim of this study was to describe a de novo MFN2 p.R104W mutation and characterize the associated phenotype. We screened the entire coding region of MFN2 gene and characterized its clinical phenotype, nerve conduction studies and sural nerve biopsy. Neuropsychological tests and brain MRI were also performed. A de nova mutation was found in exon 4 (c.310C > T; p.R104W). In addition to a severe and early onset axonal neuropathy, the patient presented learning problems, obesity, glucose intolerance, leukoencephalopathy, brain atrophy and evidence of myelin involvement and mitochondrial structural changes on sural nerve biopsy. These results suggest that MFN2 p.R104W mutation is as a hot-spot for MFN2 gene associated to a large and complex range of phenotypes. (C) 2011 Elsevier B.V. All rights reserved.

Behavioural responses of heifers to ACTH injections

The objective of this study was to investigate behavioural changes in Holstein heifers caused by exogenous adrenocorticotropic hormone (ACTH) administration. Twelve 11-month-old heifers were submitted to either a single saline or ACTH injection and then the treatments were switched after 3 days (n = 12 heifers/treatment). Heifers were in full view throughout the experimental period and recordings started immediately after ACTH and saline administration (injection corresponded to time 0 min), with general activity patterns of each heifer recorded on videotape for 24 h. Behavioural results during the first two experimental hours showed that heifers were less active and spent more time lying following ACTH than after saline treatment (P = 0.04). Also, heifers spent significantly less time ruminating immediately following ACTH injection (P = 0.05). However, feed intake measured after 4 and 24 h was similar between treatments (P > 0.05). Overall, there was no significant influence of ACTH treatment on frequency or duration of behaviours during the 4- and 24-h periods following injection (P > 0.05). The rapid and minimal effect of ACTH injection on behaviour suggests that peripheral administration of ACTH can be used to measure reactivity of the adrenal cortex without inducing biologically significant consequences. (C) 2010 Elsevier B.V. All rights reserved.

Masculine, feminine or neutral? In-company equal opportunities policies in Irish and French MNC retailing

Several problematic aspects of women's paid employment - e.g. low pay and lack of promotional opportunities - are exacerbated by the segregation of women and men into different occupations. In this article, the potential of in-store equal opportunities policies to break down such gender segregation will be explored, through consideration of the existence and implementation of these policies in twenty-two multinational retail companies in Dublin and Paris. It will be argued that, with one notable exception, the instore equal opportunities policies are effectively neutralized, and furthermore are neutralized in nationally specific ways which can be related to differences between France and Ireland in the organization of labour-market regulation and in women's labour-force participation (LFP). The case-study findings also suggest that the 'country' variable has a stronger effect on the existence and implementation of these policies than the extent of a shop's links to an overseas headquarters. The findings of this study have implications for both the equity of women's incorporation into the paid labour force and understanding of aspects of HRM in branches of multinational companies.

Young women in conflict: Filipinas growing up in Australia

This paper discusses the tensions of adaptation as experienced by 72 young women, born in the Philippines or to immigrant mothers and resident in southeast, far west and far north Queensland, Australia. As illustrated, these women, aged 14-25 years, often have difficulty balancing their expectations with those of their families and of the society in which they live. Like most young Australians they experience some conflicts with parents, but the intersections of race, gender and culture may make it particularly difficult for young Filipinas to develop a sense of their own identity and place in society. The retention of Filipino values often isolates young women from their peers and excludes them from participating in activities considered an important part of growing up Australian, but the adoption of 'Australian' behaviors such as drinking and smoking is not necessarily accompanied by an enhanced sense of belonging.

Um sobrevôo no "Caso Marie Curie": um experimento de antropologia, gênero e ciência

O presente artigo visa fazer uma releitura do "Caso Marie Curie" sob o signo do acontecimento. O intuito, assim, é explorar relações constituintes da controvérsia que se desdobrou no prêmio Nobel de 1903, que laureou a descoberta da radioatividade e de elementos radioativos. A porta de entrada, para tal empreitada, serão as mediações entre as relações de gênero e os não-humanos mobilizados nos laboratórios. Baseado nessas mediações, descrevo a diferença de possibilidades masculino/feminina em fazer-existir a Natureza em relação ao poder que a definição de gênero dá a uns em detrimento de outros, mas também como ao fazer-existir a radioatividade constituiu-se um devir, que fez essa relação gaguejar, mudando-a de sentido. O "Caso Marie Curie" torna imediatamente inseparável dois domínios: tanto o envolvimento das relações de gênero na produção científica quanto o envolvimento da ciência nas relações de gênero. Esse acontecimento ressoa para abordagens antropológicas e feministas da ciência. Assim, coloco-as em discussão na medida em que as relações de poder fizeram-me respeitar o devir que o ofício da cientista pôs em cena: a radioatividade.

Inesgotável Koltès: dois ensaios sobre "Na solidão dos campos de algodão" de Bernard-Marie Koltès

Dois ensaios sobre a peça "Na solidão dos campos de algodão". Um explora as suas categorias trágicas e o outro compara o texto de Koltès com o "Auto da Alma" de Gil Vicente.

Pierre-Marie Goulet: "Demoro muito tempo a perceber o que um filme tem dentro"

O projecto “Principais tendências no cinema português contemporâneo” nasceu no Departamento de Cinema da ESTC, com o objectivo de desenvolver investigação especializada a partir de um núcleo formado por alunos da Licenciatura em Cinema e do Mestrado em Desenvolvimento de Projecto Cinematográfico, a que se juntaram professores-investigadores membros do CIAC e convidados. O que agora se divulga corresponde a dois anos e meio de trabalho desenvolvido pela equipa de investigação, entre Abril de 2009 e Novembro de 2011. Dada a forma que ele foi adquirindo, preferimos renomeá-lo, para efeitos de divulgação, “Novas & velhas tendências no cinema português contemporâneo”.