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For the most part, teachers and students agree that WCF is an important part of language learning (Corpuz, 2011); however, there is disagreement about the type of feedback that best facilitates students’ development. This disagreement extends both to the typology of WCF (i.e., direct, indirect, metalinguistic) and to the question of whether feedback should be comprehensive or focus on specific error types (Ellis, 2009). Many studies (e.g., Biber, Nekrasova, & Horn, 2011; Kang & Han, 2015) have investigated the effectiveness of WCF in improving writing; however, few researchers have studied teachers’ and students’ perceptions of the usefulness of feedback on specific categories of error. These perceptions impact instruction, particularly when they are not aligned. Students may believe that their teachers have failed to address the most crucial errors in their writing. Conversely. teachers may believe that students have disregard important feedback. This report describes an investigation of preferences in WCF, examining the importance that teachers and students ascribe to five categories of feedback: content, grammar, organization, spelling, and vocabulary. These categories encompass the major areas of WCF. Based on a review of the literature and the state of language education in Thailand, we hypothesized that teachers’ and students’ preferences regarding WCF in the five areas studied would differ.

This study investigates the preferences and justifications of teachers and students on written corrective feedback (WCF) at a tertiary institution in Thailand and is aimed at expanding on prior similar studies conducted with smaller data sets in different contexts. Quantitative and qualitative questionnaire data were collected from 262 intermediate students and 21 teachers in order to test two hypotheses: (1) teachers’ and students’ WCF preferences would differ significantly, and (2) their justifications for their preferences would differ significantly. The hypotheses were confirmed: teachers rated indirect feedback with metalinguistic comment as being most useful while students most preferred direct feedback with metalinguistic comment. This trend extended to all types of direct feedback being preferred by students while teachers preferred all types of indirect feedback. The most common explanation for the teachers’ preferences was the development of metacognitive skills, while accuracy was the greatest concern for students. The pedagogical implications of the results regarding expectations, student agency, and self-efficacy are discussed. DOI: http://doi.org/10.17576/gema-2016-1603-07

Forests play a crucial role in the global carbon (C) cycle by storing and sequestering a substantial amount of C in the terrestrial biosphere. Due to temporal dynamics in climate and vegetation activity, there are significant regional variations in carbon dioxide (CO2) fluxes between the biosphere and atmosphere in forests that are affecting the global C cycle. Current forest CO2 flux dynamics are controlled by instantaneous climate, soil, and vegetation conditions, which carry legacy effects from disturbances and extreme climate events. Our level of understanding from the legacies of these processes on net CO2 fluxes is still limited due to their complexities and their long-term effects. Here, we combined remote sensing, climate, and eddy-covariance flux data to study net ecosystem CO2 exchange (NEE) at 185 forest sites globally. Instead of commonly used non-dynamic statistical methods, we employed a type of recurrent neural network (RNN), called Long Short-Term Memory network (LSTM) that captures information from the vegetation and climate's temporal dynamics. The resulting data-driven model integrates interannual and seasonal variations of climate and vegetation by using Landsat and climate data at each site. The presented LSTM algorithm was able to effectively describe the overall seasonal variability (Nash-Sutcliffe efficiency, NSE = 0.66) and across-site (NSE = 0.42) variations in NEE, while it had less success in predicting specific seasonal and interannual anomalies (NSE = 0.07). This analysis demonstrated that an LSTM approach with embedded climate and vegetation memory effects outperformed a non-dynamic statistical model (i.e. Random Forest) for estimating NEE. Additionally, it is shown that the vegetation mean seasonal cycle embeds most of the information content to realistically explain the spatial and seasonal variations in NEE. These findings show the relevance of capturing memory effects from both climate and vegetation in quantifying spatio-temporal variations in forest NEE.

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.

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.

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.

Contains fulltext : 87248.pdf (Publisher’s version ) (Open Access) Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photoreceptor and retinal pigment epithelium cells. These diseases until recently have been considered to be incurable. Molecular genetic studies in the last two decades have revealed the underlying molecular causes in approximately two-thirds of patients. The mammalian eye has been at the forefront of therapeutic trials based on gene augmentation in humans with an early-onset nonsyndromic recessive retinal dystrophy due to mutations in the retinal pigment epithelium-specific protein 65kDa (RPE65) gene. Tremendous challenges still lie ahead to extrapolate these studies to other retinal disease-causing genes, as human gene augmentation studies require testing in animal models for each individual gene and sufficiently large patient cohorts for clinical trials remain to be identified through cost-effective mutation screening protocols.

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.

Background Choroideremia (CHM) is a slowly progressive X-linked retinal degeneration that results in a loss of photoreceptors, retinal pigment epithelium and choroid. CHM, the gene implicated in choroideremia, encodes Rab escort protein-1 (REP-1), which is involved in the post-translational activation via prenylation of Rab proteins. Methods We evaluated AAV8.CBA.hCHM, a recombinant adeno-associated virus serotype 8 (rAAV8) vector, which targets retinal cells efficiently, for both therapeutic effect and safety in vitro and in vivo in a murine model. In vitro studies included western blot analyses and prenylation assays. In vivo studies included ophthalmoscopy, pupillometry, histology and immunofluorescence analysis. Results Infection with AAV8.CBA.hCHM induced the expression of REP-1 protein in a dose-responsive fashion. Transduction with AAV8.CBA.hCHM reverses the biochemical and pathogenetic defects in CHM both in vitro and in vivo and showed no safety concerns in the in vivo investigations performed in the present study. Conclusions AAV8 is a promising vector for human clinical gene therapy trials for choroideremia. Copyright © 2014 John Wiley & Sons, Ltd.

BACKGROUND—Many mutations that contribute to the pathogenesis of acute myeloid leukemia (AML) are undefined. The relationships between patterns of mutations and epigenetic phenotypes are not yet clear. METHODS—We analyzed the genomes of 200 clinically annotated adult cases of de novo AML, using either whole-genome sequencing (50 cases) or whole-exome sequencing (150 cases), along with RNA and microRNA sequencing and DNA-methylation analysis. RESULTS—AML genomes have fewer mutations than most other adult cancers, with an average of only 13 mutations found in genes. Of these, an average of 5 are in genes that are recurrently mutated in AML. A total of 23 genes were significantly mutated, and another 237 were mutated in two or more samples. Nearly all samples had at least 1 nonsynonymous mutation in one of nine categories of genes that are almost certainly relevant for pathogenesis, including transcriptionfactor fusions (18% of cases), the gene encoding nucleophosmin (NPM1) (27%), tumorsuppressor genes (16%), DNA-methylation–related genes (44%), signaling genes (59%), chromatin-modifying genes (30%), myeloid transcription-factor genes (22%), cohesin-complex genes (13%), and spliceosome-complex genes (14%). Patterns of cooperation and mutual exclusivity suggested strong biologic relationships among several of the genes and categories. CONCLUSIONS—We identified at least one potential driver mutation in nearly all AML samples and found that a complex interplay of genetic events contributes to AML pathogenesis in individual patients. The databases from this study are widely available to serve as a foundation for further investigations of AML pathogenesis, classification, and risk stratification. (Funded by the National Institutes of Health.) The molecular pathogenesis of acute myeloid leukemia (AML) has been studied with the use of cytogenetic analysis for more than three decades. Recurrent chromosomal structural variations are well established as diagnostic and prognostic markers, suggesting that acquired genetic abnormalities (i.e., somatic mutations) have an essential role in pathogenesis. 1,2 However, nearly 50% of AML samples have a normal karyotype, and many of these genomes lack structural abnormalities, even when assessed with high-density comparative genomic hybridization or single-nucleotide polymorphism (SNP) arrays 3-5 (see Glossary). Targeted sequencing has identified recurrent mutations in FLT3, NPM1, KIT, CEBPA, and TET2. 6-8 Massively parallel sequencing enabled the discovery of recurrent mutations in DNMT3A 9,10 and IDH1. 11 Recent studies have shown that many patients with

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.

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.