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Spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons causing muscle atrophy and weakness. Nusinersen, the first effective SMA therapy was approved by Health Canada in June 2017 and has been added to the provincial formulary of all but one Canadian province. Access to this effective therapy has triggered the inclusion of SMA in an increasing number of Newborn Screening (NBS) programs. However, the range of disease-modifying SMN2 gene copy numbers encountered in survival motor neuron 1 (SMN1)-null individuals means that neither screen-positive definition nor resulting treatment decisions can be determined by SMN1 genotype alone. We outline an approach to this challenge, one that specifically addresses the case of SMA newborns with four copies of SMN2.
To develop a standardized post-referral evaluation pathway for babies with a positive SMA NBS screen result.
An SMA NBS pilot trial in Ontario using first-tier MassARRAY and second-tier multi-ligand probe amplification (MLPA) was launched in January 2020. Prior to this, Ontario pediatric neuromuscular disease and NBS experts met to review the evidence regarding the diagnosis and treatment of children with SMA as it pertained to NBS. A post-referral evaluation algorithm was developed, outlining timelines for patient retrieval and management.
Ontario’s pilot NBS program has created a standardized path to facilitate early diagnosis of SMA and initiation of treatment. The goal is to provide timely access to those SMA infants in need of therapy to optimize motor function and prolong survival.
As chemical management options for weeds become increasingly limited due to selection for herbicide resistance, investigation of additional nonchemical tools becomes necessary. Harvest weed seed control (HWSC) is a methodology of weed management that targets and destroys weed seeds that are otherwise dispersed by harvesters following threshing. It is not known whether problem weeds in western Canada retain their seeds in sufficient quantities until harvest at a height suitable for collection. A study was conducted at three sites over 2 yr to determine whether retention and height criteria were met by wild oat, false cleavers, and volunteer canola. Wild oat consistently shed seeds early, but seed retention was variable, averaging 56% at the time of wheat swathing, with continued losses until direct harvest of wheat and fababean. The majority of retained seeds were >45 cm above ground level, suitable for collection. Cleavers seed retention was highly variable by site-year, but generally greater than wild oat. The majority of seed was retained >15 cm above ground level and would be considered collectable. Canola seed typically had >95% retention, with the majority of seed retained >15 cm above ground level. The suitability ranking of the species for management with HWSC was canola>cleavers>wild oat. Efficacy of HWSC systems in western Canada will depend on the target species and site- and year-specific environmental conditions.
Patient registries represent an important method of organizing “real world” patient information for clinical and research purposes. Registries can facilitate clinical trial planning and recruitment and are particularly useful in this regard for uncommon and rare diseases. Neuromuscular diseases (NMDs) are individually rare but in aggregate have a significant prevalence. In Canada, information on NMDs is lacking. Barriers to performing Canadian multicentre NMD research exist which can be overcome by a comprehensive and collaborative NMD registry.
We describe the objectives, design, feasibility and initial recruitment results for the Canadian Neuromuscular Disease Registry (CNDR).
The CNDR is a clinic-based registry which launched nationally in June 2011, incorporates paediatric and adult neuromuscular clinics in British Columbia, Alberta, Ontario, Quebec, New Brunswick and Nova Scotia and, as of December 2012, has recruited 1161 patients from 12 provinces and territories. Complete medical datasets have been captured on 460 “index disease” patients. Another 618 “non-index” patients have been recruited with capture of physician-confirmed diagnosis and contact information. We have demonstrated the feasibility of blended clinic and central office-based recruitment. “Index disease” patients recruited at the time of writing include 253 with Duchenne and Becker muscular dystrophy, 161 with myotonic dystrophy, and 71 with ALS.
The CNDR is a new nationwide registry of patients with NMDs that represents an important advance in Canadian neuromuscular disease research capacity. It provides an innovative platform for organizing patient information to facilitate clinical research and to expedite translation of recent laboratory findings into human studies.
A family of low melting temperature tin fluorophosphate glasses that can incorporate certain organic compounds has been under investigation. The glasses are comprised principally of SnF2, SnO, and P2O5; the addition of small amounts (< 5%) of Pb improves chemical durability. These materials are dense, reasonably water durable, and easily fabricated. Photoluminescence properties of glasses doped with pyrene, POPOP, stilbene 420 and several other organic molecules were studied. All of the doped glasses exhibited intense photoluminescence. Pyrene doped glass was found to have monomer-triplet and dimer-excimer pyrene species present, depending on the dopant concentration. Scintillation properties of the glasses were also investigated. Generally a very fast (~1 ns or less) but weak luminescence was observed. Results of these studies suggest that higher concentrations of the dyes must be incorporated into the glass and more efficient energy transfer from the glass host to the organic fluor must be attained for these materials to be useful as fast scintillators.
Spinel (MgAl2O4) single crystals which had been neutron irradiated at (nominally) 400 and 750°C to high doses (53-250 dpa) were examined using 27Al magic angle spinning (MAS) nuclear magnetic resonance (NMR). The sensitivity of this procedure to a specific cation (Al) residing in different crystallographic environments allowed us to determine the distribution of the Al between the tetrahedral and octahedral cation sites in the spinel structure. Our results indicate that the Al was distributed nearly equally over both cation sites in the spinel, resulting in a nearly inverse structure.
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