Understanding Student Development Of Science Literacy Skills in an Undergraduate Environmental Science Course

Educators are expected to instill a variety of skills in their students that are necessary to be competent citizens of society. One such set of skills, science literacy skills, broadly encompass the ability of an individual to evaluate reliability of data and information and critically analyze and interpret them (Gormally Brickman, Hallar, & Armstrong, 2009). These skills are utilized in everyday decision-making and given their pertinence, there is a need for citizens to be scientifically literate. Thus, educators need tools and assessments to help students develop these skills and analyze their science literacy. The aim of this study was to develop science literacy interventions that could be easily incorporated into college curricula, providing instructors with exemplars of classroom interventions with the intent to improve students’ science literacy skills. Therefore, the broad research question for this investigation was: How do science literacy interventions impact student proficiency in science literacy skills in college general education courses? I measured effectiveness of the interventions using the Test of Science Literacy Skills (TOSLS, Gormally Brickman, & Lutz, 2012) pre- and post-survey scores, as well as student feedback from pre- and post-survey, follow-up interviews. The TOSLS surveys were given as part of a participation grade to students in a general education undergraduate college course (n = 148). A subset of students volunteered to be interviewed regarding specific questions from the TOSLS survey, after both the pre-survey (n = 12) and the post-survey (n = 5), to further investigate student understanding and interpretation. Interventions were designed by modifying previous assignments from earlier years’ offerings of the class and were conducted both during class and outside of class as homework extensions. These interventions were created by evaluating scores and interviews on the TOSLS survey deployed as a pilot study in a previous semester of the undergraduate course. Based on these pilot data, four survey questions encompassing different science literacy skills of particular difficulty were targeted for intervention. The interventions were: (1) An interactive clicker-based lesson involving graph selection methods; (2) Data summits involving graph interpretation and source evaluation; and (3) A role-play after which students discussed sources of bias. Although the results indicated no statistically significant changes in the average scores between the pre-survey and post-survey (t test, p = 0.82, α = 0.05), interviewed students recalled participating in the interventions and found them useful. Pre-survey scores ranged from 18%-96% correct with a mean score of 59%. Post-surveys had a slightly smaller range of 21%-96% with a mean of 60% correct. Based on these results, more work is necessary to provide instructors with course interventions that incorporate science literacy activities that target specific components of science literacy skills. Assessments, like TOSLS, are tools that can measure science literacy skills broadly across various science courses and provide a good overview of student science literacy. By broadening the use of a single tool, measurements can be compared between classrooms to produce interventions that do not have to heavily impact curriculum pacing, yet will provide students with the tools and skills necessary to be more scientifically literate citizens

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genotype and phenotype is not respected, even if carrying a typical Duchenne mutation (exon 44 deletion) a Becker-like phenotype was observed. Here we report that in this patient, partial restoration of an in-frame transcript occurs by natural skipping of exon 45 and that this is due to the lack of Celf2a, a splicing factor that interacts with exon 45 in the dystrophin pre-mRNA. Several experiments are presented that demonstrate the central role of Celf2a in controlling exon 45 splicing; our data point to this factor as a potential target for the improvement of those DMD therapeutic treatments, which requires exon 45 skipping

Unraveling biomarkers in Parkinson’s disease: the role of Insulin-like growth factor-1 (IGF-1) and DAT imaging

2015 - 2016Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease, affecting up to 10 million individuals worldwide. Although symptomatic treatment ameliorates motor symptoms, currently there are no disease-modifying treatments. A biomarker is defined by the National Institutes of Health as “a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes or pharmacological responses to a therapeutic intervention”. Thus, biomarkers include clinical data, measurements of biological samples (e.g., plasma, serum, cerebrospinal fluid) and application of brain imaging techniques to detect changes in brain structure and function. As for PD, biomarkers represent tools potentially suitable for either clinical or research settings and useful in predicting onset, confirming diagnosis, detecting progression and evaluating the response to disease-modifying treatments. In addition, biomarkers’ trends in different stages of disease may reflect the widespread neurochemical and neuroanatomical changes that occur throughout the course of PD and, thus, possibly suggest new insights in the pathophysiological mechanisms underlying disease progression. The range of available biomarkers in PD is fast expanding and includes an increasing number of laboratory, clinical and imaging data. ... [edited by Author]XXIX cicl

Biomarkers of Parkinson's disease: recent insights, current challenges, and future prospects

Marina Picillo,1 Marcello Moccia,2 Emanuele Spina,2 Paolo Barone,1 Maria Teresa Pellecchia1 1Department of Medicine and Surgery, Center for Neurodegenerative Diseases (CEMAND), Neuroscience Section, University of Salerno, Salerno, Italy; 2Department of Neuroscience, Reproductive and Odontostomatologic Sciences, Federico II University, Naples, Italy Abstract: A biomarker represents a tool possibly helping physicians in predicting onset, diagnosis, and progression of a disease as well as evaluating the response to disease-modifying treatments. Currently, there is no biomarker fulfilling all such ideal criteria for Parkinson's disease (PD). In this article, we have critically reviewed the literature searching for the most reliable and reproducible clinical, biochemical, and imaging biomarkers for prodromal phase, diagnosis, and progression of PD. Different comprehensive batteries of biomarkers have been proposed as a sensitive approach to predict the onset of PD during the prodromal phase. There is a discussion about the redefinition of the clinical diagnosis of PD, including clinical biomarkers as non-motor symptoms; however, on the other hand, we have also observed that imaging biomarkers support the differential diagnosis from other causes of parkinsonism. Various clinical (eg, freezing of gait or cognitive impairment), biochemical (eg, epidermal growth factor, insulin-like growth factor 1, uric acid, etc), and imaging (eg, functional magnetic resonance imaging, voxel-based morphometry, etc) biomarkers may help envisaging disease progression of PD. To conclude, given the lack of a single biomarker that could track the entire course of the disease, our challenge is to find the best combinations of biomarkers for the different stages of the disease. Keywords: biomarkers, Parkinson's disease, progression, motor, imaging , staging, non moto

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Mutations in the human desmin gene (DES) may cause both autosomal dominant and recessive cardiomyopathies leading to heart failure, arrhythmias and atrio-ventricular blocks, or progressive myopathies. Cardiac conduction disorders, arrhythmias and cardiomyopathies usually associated with progressive myopathy are the main manifestations of autosomal dominant desminopathies, due to mono-allelic pathogenic variants. The recessive forms, due to bi-allelic variants, are very rare and exhibit variable phenotypes in which premature sudden cardiac death could also occur in the first or second decade of life. We describe a further case of autosomal recessive desminopathy in an Italian boy born of consanguineous parents, who developed progressive myopathy at age 12, and dilated cardiomyopathy four years later and died of intractable heart failure at age 17. Next Generation Sequencing (NGS) analysis identified the homozygous loss-of-function variant c.634C>T; p.Arg212*, which was likely inherited from both parents. Furthermore, we performed a comparison of clinical and genetic results observed in our patient with those of cases so far reported in the literature

Genetic modifiers of Duchenne muscular dystrophy and dilated cardiomyopathy

OBJECTIVE: Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset. METHODS: A multicentric cohort of 178 DMD patients was genotyped by TaqMan assays. We performed a time-to-event analysis of DCM onset, with age as time variable, and finding of left ventricular ejection fraction 70 mL/m2 as event (confirmed by a previous normal exam < 12 months prior); DCM-free patients were censored at the age of last echocardiographic follow-up. RESULTS: Patients were followed up to an average age of 15.9 \ub1 6.7 years. Seventy-one/178 patients developed DCM, and median age at onset was 20.0 years. Glucocorticoid corticosteroid treatment (n = 88 untreated; n = 75 treated; n = 15 unknown) did not have a significant independent effect on DCM onset. Cardiological medications were not administered before DCM onset in this population. We observed trends towards a protective effect of the dominant G allele at SPP1 rs28357094 and recessive T allele at LTBP4 rs10880, which was statistically significant in steroid-treated patients for LTBP4 rs10880 (< 50% T/T patients developing DCM during follow-up [n = 13]; median DCM onset 17.6 years for C/C-C/T, log-rank p = 0.027). CONCLUSIONS: We report a putative protective effect of DMD genetic modifiers on the development of cardiac complications, that might aid in risk stratification if confirmed in independent cohorts

Thromboembolic events and haematological diseases: a case of stroke as clinical onset of a paroxysmal nocturnal haemoglobinuria

Some haematological diseases are associated to an increased risk of thromboembolic events. We report a case of paroxysmal nocturnal haemoglobinuria (PNH) in which a cerebrovascular event represented the first clinical manifestation of disease. PNH is associated to thromboembolic events, generally of venous districts often involving unusual locations such as mesenteric vessels, sagittal veins, inferior vena cava and renal veins. To our knowledge arterial thrombotic episodes are rare and the involvement of arterial cerebral vessels is exceptional. Then, our case points out the importance of investigating about haematological disorders in all patients presenting with a stroke, in which the common predisposing conditions are excluded

Regional Gray Matter Atrophy in Patients with Parkinson Disease and Freezing of Gait

BACKGROUND AND PURPOSE: FOG is a troublesome symptom of PD. Despite growing evidence suggesting that FOG in PD may be associated with cognitive dysfunction, the relationship between regional brain atrophy and FOG has been poorly investigated. MATERIALS AND METHODS: Optimized VBM was applied to 3T brain MR images of 24 patients with PD and 12 HC. Patients were classified as either FOG− or FOG+ (n = 12) based on their responses to a validated FOG Questionnaire and clinical observation. All patients with PD also underwent a detailed neuropsychological evaluation. RESULTS: The VBM analysis in patients with FOG+ showed a reduced GM volume in the left cuneus, precuneus, lingual gyrus, and posterior cingulate cortex compared with both patients with FOG− and HC. We did not detect any significant change of GM volume when comparing HC versus all patients with PD (FOG− and FOG+). FOG clinical severity was significantly correlated with GM loss in posterior cortical regions. Finally, patients with FOG+ scored lower on tests of frontal lobe function. CONCLUSIONS: Our findings provide the first evidence that the development of FOG in patients with PD is associated with posterior GM atrophy, which may play a role in the complex pathophysiology of this disabling symptom