Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome

<p>Abstract</p> <p>Background</p> <p>The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the <it>myelin protein zero (MPZ) </it>gene varies considerably, from early onset and severe forms to late onset and milder forms. The mechanism is not well understood. The myelin protein zero (P₀) mediates adhesion in the spiral wraps of the Schwann cell's myelin sheath. The crystalline structure of the extracellular domain of the myelin protein zero (P₀ex) is known, while the transmembrane and intracellular structure is unknown.</p> <p>Findings</p> <p>One novel missense mutation caused a milder late onset CMT type 2, while the second missense mutation caused a severe early onset phenotype compatible with Déjérine-Sottas syndrome.</p> <p>Conclusions</p> <p>The phenotypic variation caused by different missense mutations in the <it>MPZ </it>gene is likely caused by different conformational changes of the MPZ protein which affects the functional tetramers. Severe changes of the MPZ protein cause dysfunctional tetramers and predominantly uncompacted myelin, i.e. the severe phenotypes congenital hypomyelinating neuropathy and Déjérine-Sottas syndrome, while milder changes cause the phenotypes CMT type 1 and 2.</p

The influence of two rehabilitation protocols in upper-limb function of stroke patients

A significant decrease of upper limb functionality occurs after stroke (Nunes et al., 2005). There are two different approaches on upper limb rehabilitation of stroke patients: unilateral and bilateral protocols (Byblow and Lewis, 2004). The main goal of this study was to assess the differences in the functionality of the hemiparetic upper limb (HUL) among individuals with chronic hemiparesis submitted to a Unilateral Protocol (UP) and those submitted to a Bilateral Protocol (BP). Eight individuals with stroke and chronic hemiparesis were recruited and randomly divided in two groups (four participants in each group). All participants were followed during six weeks and evaluated at four different moments of the intervention protocol using the Fulg-Meyer (FM) Assessment Scale (Fulg Meyer et al. 1975) and the Purdue Pegboard (PP) (Tiffin, 1948). The statistical procedures included percentage evolution and descriptive analysis for each participant. The findings suggest that the UP presented more favorably evolution, considering the FM (9%, 15%, 15%, 0%) and the PP (18%, 8%, --, 10%), when compared with the BP for the FM (0%, -1%, 11%, -22%) and PP (1%, 19%, --, 0%). Therefore, this study suggests that Unilateral Protocols are at least as effective as Bilateral Protocols on hemiparetic upper limb rehabilitation.publishe

Moving towards increased cultural competency in public health research

There has been a renewed focus in recent decades on collaborative approaches in community-based public health research and interventions. This is an important grounding for addressing the needs of culturally and linguistically diverse (CALD) communities. But how well do we as researchers prepare for the complexities of working with CALD communities? And what sort of support do we need to meet the challenges of the task? Cultural competence refers to the extent to which researchers, practitioners and organisations have the necessary skills, knowledge, attitudes and policies to work effectively in cross-cultural situations. The shift towards cultural competence in public health is evidenced by the development of policies and guidelines by government bodies and leading research institutions in countries such as Canada, the United States, Australia and New Zealand. This chapter will draw on these guidelines, on models of cultural competency used in welfare and health service delivery, and on collaborative research approaches. A framework for moving towards cultural competence in public health research and health promotion interventions will be discussed, drawing case study examples from the co-authors’ community-based experiences. This will highlight the complexities but also the importance of adopting culturally competent strategies in public health research and health promotion interventions. The need for supporting government and funding structures will also be proposed

Cultural competence in public health

Becoming culturally competent is a pressing priority for public health decision makers and decision making, if we are to ensure that strategies are delivered to maximize health equity and minimize health inequalities. Decision makers across government, nongovernment, and research sectors have commonly equated these considerations with increased need for resources. By contrast, the shift toward achieving cultural competence in public health practice is likely to reveal new ideas about intransigent factors contributing to health inequalities and innovative strategies for health promotion and public health. With increasing population diversity globally, cultural competence will become the hallmark of high-quality public health systems, programs, and research

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

Item does not contain fulltex