A DM1 patient with CCG variant repeats: Reaching the diagnosis.

We report the case of a male patient presenting in his 50s with ptosis, facial and distal limb muscle weakness, clinical and electrical myotonia, and a prior history of cataract extraction. He had a dominant family history in keeping with a similar phenotype. Myotonic dystrophy type 1 was clinically suspected. Triplet-primed polymerase chain reaction in a diagnostic laboratory did not identify a typical CTG repeat expansion on two separate blood samples. However, subsequent genetic testing on a research basis identified a heterozygous repeat expansion containing CCG variant repeats. Our case highlights the point that variant repeats are not detectable on triplet-primed polymerase chain reaction and result in a milder phenotype of myotonic dystrophy. It is crucial to maintain a high clinical index of suspicion of this common neuromuscular condition.

Guidelines for first responders based on results from deploying a mockup radiological dispersal device.

During the past 7th Security Framework Program the European Commission funded a research project called CATO (CBRN Crisis management, Architectures, Technologies and Operational procedures) to develop a prototype decision support system for crisis management in addition to providing a suite of guidelines for first responders and incident commanders when dealing with chemical, biological, radiological or nuclear incidents. In order to derive these guidelines a proof-of-concept experiment was setup during which several passive agent (Stable CsCl) dispersions with improvised explosive devices and vehicle-borne improvised explosive devices were carried out. Each dispersion was thoroughly characterised by a number of monitoring devices, including high-volume air samplers and size-segregated air samplers. All environmental and forensic samples were collected by the UK counter terrorism police, following strict labelling and chain-of-custody protocols. The samples were analysed at the Belgian Nuclear Research Center suing the k0 method for instrumental neutron activation technique. A full consequence assessment analysis was carried out assuming that the observed concentration of Cs-133 in samples was Cs-137 instead and use was made of the specific activity of Cs-137. Due to the sensitivity of the information the European Commission classified this research. The resulted reported on in this work have been unclassified and are released to assist emergency planners and first responders to take the necessary precautions. The results indicate that, up to distances of 50 m from ground zero radiation levels will be considerable and therefore live-saving actions must be performed by fire/rescue wearing full protective gear. In addition, low-wind conditions will favor a long airborne residence time and therefore the use of full-face protective gear is a must. In order to protect first responders, a radiation protection specialist is to determine how long people can enter and remain in the contaminated area. The recovery of evidence in the case of a car-bomb will be hard or even impossible due to the high level of radioactive material remaining inside the vehicle.

An open label clinical trial of complement inhibition in multifocal motor neuropathy.

Human and animal studies on antibody-mediated neuropathy implicate complement in pathogenesis. In animal models complement inhibition is therapeutically beneficial. The monoclonal antibody, eculizumab (Soliris™, Alexion Pharmaceuticals, Cheshire, CT), prevents cleavage of C5 and thus inhibits terminal complement activation. In an open label study, 13 multifocal motor neuropathy patients received eculizumab for 14 weeks, 10 of whom were concomitantly receiving intravenous immunoglobulin. The primary outcome was safety of eculizumab, and the secondary outcomes included change in intravenous immunoglobulin (IVIg) dosing frequency, performance, and electrophysiological parameters. Adverse events were minor during the study. Nine of 10 patients on IVIg maintenance continued to require IVIg. IVIg dosing interval was not different between the run-in and the treatment period. There were improvements in patient-rated subjective scores and selected clinical and electrophysiological measurements. Overall, a small treatment effect occurred in some patients that appeared supplementary to and independent of the IVIg treatment effect, and occurred more frequently in patients with higher baseline motor function.