POLR3A-related spastic ataxia: new mutations and a look into the phenotype

Journal of Neurology - Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in...     

Transcatheter mitral valve repair in nonagenarians

Given the increase in life expectancy indeveloped countries,nonagenarian population will become clinically and numerically relevant in our daily routine practice in the near future.Age has been observed to exert a profound influence on the prevalence of severe mitral regurgitation (MR) in the population.[1]Mitral valve surgery remains the gold standard of care for patients with symptomatic severe MR.     

Violence Committed Against Migrants in Transit: Experiences on the Northern Mexican Border

Thousands of Mexican and Central American migrants converge at the Mexico-United States border. Undocumented migrants in transit to the United States are vulnerable due to their lack of access to health care and legal assistance. This study attempts to provide evidence on the violent-related consequences that migration has on migrants. A mixed-method study was conducted between April 2006-May 2007 in shelters in Baja California, Mexicali and Tijuana, Mexico. 22 in depth interviews were performed and fifteen hundred and twelve migrants responded a questionnaire. Results from both in-depth interviews and the analysis of the quantitative data shows the different types of violence experiences by migrants which include threats, verbal abuse, and arbitrary detention based on ethnicity, as well as assaults, beatings and sexual violence. It is crucial to stress the importance and the need to evidence the condition in which migrants’ transit to the US and to effectively respond to the violence they experience.     

Comparative evaluation of cytotoxicity and phototoxicity of mono and diacylglycerol amino acid-based surfactants

Extensive efforts have been made, recently, to find surfactants with lower irritancy potential than those presently commercially employed in pharmaceutical and cosmetic preparations. Cytotoxic and phototoxic effects of novel mono and diacylglycerol amino acid-based surfactants (glutamic acid, or arginine) were evaluated.All tested surfactants showed a clear concentration–response relationship to two immortalized cell lines, murine fibroblast cell line, 3T3, and one human keratinocyte cell line, HaCaT, demonstrated by and decrease of NR uptake. Concentrations resulting in 50% inhibition of NR uptake (IC₅₀) range from 30 to 300 μg mL⁻¹.The potential phototoxicity which could result in irritant products, was determined by modulated cytotoxicity via the resazurin reduction to resorufin and neutral red uptake (NRU) endpoints. Surfactants with two chains showed, in general, less cytotoxic but higher phototoxic effect than surfactants with only one chain.     

Interleukin-12 enhances clinical experimental autoimmune myasthenia gravis in susceptible but not resistant mice

Experimental autoimmune myasthenia gravis (EAMG) is induced by antibodies against the nicotinic acetylcholine receptor (AChR). Studies indicate a role for interferon-gamma (IFN-gamma) in EAMG. We examined the effect of IL-12, a major inducer of IFN-gamma production, on EAMG in C57BL/6 mice. Five doses of IL-12 accelerated and enhanced clinical disease in AChR-immunized mice. Control B6 mice, IFN-gamma gene-knockout mice, and EAMG-resistant bm12 mice showed no enhancement of disease. Shifting to a Th1-type antibody isotype distribution was insufficient to cause disease. Other factors, such as direct effects of Th1 cytokines on muscle tissue, may be involved in EAMG susceptibility.