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Anaerobic digestion for biogas production forms one of the fundamental building blocks of the Bioeconomy, and a research programme has been underway in Northern Ireland, which culminated in the publication of a Biogas Research Action Plan 2020 in 2014. One important element of this programme was the identification of the need for an evidence base for the potential Bioresource feedstocks. We report on the outputs of the Quantification of Feedstocks for Anaerobic Digestion research, which has identified the organic feedstocks available for biogas production on a regional basis and categorised these: organic (biodegradable) fraction of municipal solid waste (OFMSW), sewage sludge, organic industrial and commercial wastes, and manure from livestock, food wastes and energy crops. The research further quantified the biogas and energy potential of these feedstocks and possible reductions in Greenhouse Gas (GHG) emissions. The limitations of the research are acknowledged and opportunities to address these and build on and extend the research are identified, including the extension of the research to include feedstocks for other Bioeconomy processes and the application and further development of the biorefinery concept. more...

PurposeImmunodeficiency screening has been added to many state-directed newborn screening programs. The current methodology is limited to screening for severe T-cell lymphopenia disorders. We evaluated the potential of genomic sequencing to augment current newborn screening for immunodeficiency, including identification of non-T cell disorders.MethodsWe analyzed whole-genome sequencing (WGS) and clinical data from a cohort of 1,349 newborn-parent trios by genotype-first and phenotype-first approaches. For the genotype-first approach, we analyzed predicted protein-impacting variants in 329 immunodeficiency-related genes in the WGS data. As a phenotype-first approach, electronic health records were used to identify children with clinical features suggestive of immunodeficiency. Genomes of these children and their parents were analyzed using a separate pipeline for identification of candidate pathogenic variants for rare Mendelian disorders.ResultsWGS provides adequate coverage for most known immunodeficiency-related genes. 13,476 distinct variants and 8,502 distinct predicted protein-impacting variants were identified in this cohort; five individuals carried potentially pathogenic variants requiring expert clinical correlation. One clinically asymptomatic individual was found genomically to have complement component 9 deficiency. Of the symptomatic children, one was molecularly identified as having an immunodeficiency condition and two were found to have other molecular diagnoses.ConclusionNeonatal genomic sequencing can potentially augment newborn screening for immunodeficiency. more...

To demonstrate that lateral to medial patellofemoral force and pressure ratios could be a surrogate marker of retinacular tension and patellar tracking. The patellofemoral forces of six knees from three fresh-frozen half-body female cadavers were evaluated with a capacitive sensor under simulated operative conditions in six staged clinical scenarios: native knees, knee arthroplasty without patellar resurfacing, resurfaced knee and patella, resurfaced knee and patella with lateral release, gender-specific knee arthroplasty with patella resurfacing, and gender-specific knee arthroplasty with lateral release. Maximum force and peak pressure were simultaneously recorded during three to four ranges of motion. Average values were compared between lateral and medial patellofemoral compartments as an objective measure of patellar tracking for the different settings. Significant differences in lateral and medial force and pressure differentials were seen in most scenarios despite clinically normal patellar tracking. Lateral to medial ratios of maximum force and peak pressure significantly increased after TKA (2.9, 2.1) and after patella resurfacing (2.8, 2.6) compared to the native knee (1.6, 1.8). Addition of a lateral release in resurfaced knees decreased the ratio of lateral to medial patellofemoral forces and pressures as did gender knee arthroplasty (1.5 and 1.1, 2 and 1.3, respectively). Pressure and force values most closely resembled the native knee in the resurfaced knee/resurfaced patella with lateral release and in the gender knee arthroplasty scenarios. Use of lateral to medial patellofemoral force ratios as a surrogate objective marker for patellar tracking was validated in this study by decreasing ratios observed after lateral release in TKA and with gender-specific implants. more...

Choroideremia (CHM) is an X- linked retinal degeneration that is symptomatic in the 1(st) or 2(nd) decade of life causing nyctalopia and loss of peripheral vision. The disease progresses through mid-life, when most patients become blind. CHM is a favorable target for gene augmentation therapy, as the disease is due to loss of function of a protein necessary for retinal cell health, Rab Escort Protein 1 (REP1).The CHM cDNA can be packaged in recombinant adeno-associated virus (rAAV), which has an established track record in human gene therapy studies, and, in addition, there are sensitive and quantitative assays to document REP1 activity. An animal model that accurately reflects the human condition is not available. In this study, we tested the ability to restore REP1 function in personalized in vitro models of CHM: lymphoblasts and induced pluripotent stems cells (iPSCs) from human patients. The initial step of evaluating safety of the treatment was carried out by evaluating for acute retinal histopathologic effects in normal-sighted mice and no obvious toxicity was identified. Delivery of the CHM cDNA to affected cells restores REP1 enzymatic activity and also restores proper protein trafficking. The gene transfer is efficient and the preliminary safety data are encouraging. These studies pave the way for a human clinical trial of gene therapy for CHM. more...

The majority of blunt renal trauma is a consequence of motor vehicle collisions and falls. Prior publications based on urban series have shown that significant renal injuries are almost always accompanied by gross hematuria alone or microscopic hematuria with concomitant hypotension. We present a series of blunt renal trauma sustained during recreational pursuits, and describe the mechanisms, injury patterns and management.Database review from 1996 to 2009 identified 145 renal injuries. Children younger than age 16 years, and trauma involving licensable motor vehicles, penetrating injuries and work related injuries were excluded from analysis. Grade, hematuria, hypotension, age, gender, laterality, mechanism, management, injury severity score and associated injuries were recorded.We identified 106 patients meeting the criteria and 85% of the injuries were snow sport related. Age range was 16 to 76 years and 92.5% of patients were male. There were 39 grade 1 injuries, 30 grade 2, 22 grade 3, 12 grade 4 and 3 grade 5 injuries. Gross hematuria was present in 56.7%, 77.2% and 83.3% of grade 2, grade 3 and grade 4 injuries, respectively. None of the patients with grade 2 or greater injuries and microscopic hematuria had hypotension except 1 grade 5 pedicle injury. The nephrectomy and renorrhaphy rate for grade 1 to grade 4 injuries was 0%.Compared to urban series of blunt renal trauma, recreationally acquired injuries appear to follow different patterns, including a paucity of associated injuries or hypotension. If imaging were limited to the presence of gross hematuria, or microscopic hematuria with hypotension, 23% of grade 2 to grade 4 injuries would be missed. Men are at higher risk than women. However, operative intervention is rarely helpful. more...