42 research outputs found
Development of an Attitude Scale of Mathematics and Science Teachers towards Mistake and Instant Feedback to the Mistake: A Validity and Reliability Study
The purpose of the research is to develop a valid and reliable attitude scale that can measure the attitudes of math and science teachers (315) and teacher candidates (105) towards mistakes and instant feedback. In the validity studies, the exploratory factor analysis was made with the SPS1S 8.0 package program after that the confirmatory factor analysis was made with Lisrel 8.8 software. To develop the scale; 1. Creation of Item Pool 2. Obtaining Expert Opinion, 3. Creation of Pre-Trial Form 4. Factor Analysis is made. According to factor analysis; Kaiser Meyer Olkin (KMO) rate; .808; Bartlett test result: 2148,354; Cronbach alpha reliability coefficient for the whole scale: .829. According to confirmatory factor analysis: Root Mean Square Error of Approximation (RMSEA) .022 (<.05); p-Value for Test of Close Fit .00 (<.05), standardized root mean square residual (SRMR) .014, Goodness of Fit Index (GFI) .75, Adjusted Goodness of Fit Index (AGFI) .69; Normed Fit Index (NFI) .91; Relative Fit Index (RFI) .78; Incremental Fix Index (IFI): .83; Parsimony Goodness of Fit Index (PGFI): .62; Degrees of Freedom: 760; Root Mean Square Residual (RMR): 2.07 and NonNormed Fit Index (NNFI): .88. According to research findings, attitude scale is valid and reliable so it can be used to determine math and science teachers and teacher candidates positive and negative attitudes toward mistake and giving instant feedback to mistake
Development of a Perception Scale of Private Lesson: A Validity and Reliability Study
The purpose of the research is to develop a valid and reliable perception scale that can measure the perception of math teachers (198) and science teachers (120) towards private lesson. In the validity studies, the exploratory factor analysis was made with the SPSS 25.0 package program after that the confirmatory factor analysis was made with Lisrel 8.71 software. To develop the scale; 1. Creation of Item Pool 2. Obtaining Expert Opinion, 3. Creation of Pre-Trial Form 4. Factor Analysis 5. Confirmatory factor analysis. According to factor analysis; Kaiser Meyer Olkin (KMO) rate; .780; Bartlett test result: 7466.539; Cronbach alpha reliability coefficient is: .901. According to confirmatory factor analysis: Root Mean Square Error of Approximation (RMSEA) 0.043 (.05); p-Value for Test of Close Fit .00 (.05, Goodness of Fit Index (GFI) .96, Adjusted Goodness of Fit Index (AGFI) .93; Normed Fit Index (NFI) .97; Relative Fit Index (RFI) .96; Incremental Fix Index (IFI): .99; Degrees of Freedom: 38; Root Mean Square Residual (RMR): .037 and NonNormed Fit Index (NNFI): .98. According to research findings, the perception scale is valid and reliable so it can be used to determine math teachers and science teachers’ positive and negative perceptions of private lesson
Phenytoin intoxication with no symptoms correlated with serum drug level: a case study
In high-dose intake of phenytoin, which is used frequently to treatepilepsy, nystagmus, diplopia, nausea-vomiting, lethargy, confusion, seizure, and coma can be observed. In recent studies on phenytoin intoxication, in which seizure and coma were observed in drug levels greater than 50 ug/mL. The serum phenytoin level of apatient, who consumed approximately 100 pcs of 100 mg phenytoin tablets in an effort to commit suicide, and who had no pathological finding in her neurologic examination, was 124 ug/mL. High drug level and the absence of toxic effect (or the absence of toxic effect correlated with the drug level) indicates that cytochrome P450 is functioning, but there can be a mutation in the MDR1 gene. In our case study, we report on phenytoin intoxication in a patient having a high level of phenytoin but no symptoms correlated with serum drug level, as supported by the findings in the literature.Pan African Medical Journal 2015; 2
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Our gene-based rare variant collapsing analysis used geographic ancestry-based clustering that included broader ancestries than previously possible and revealed novel associations. Using the missense intolerance ratio (MTR), we found that variants in DEE-affected individuals are in significantly more intolerant genic sub-regions than those in NAFE-affected individuals. Only previously reported pathogenic variants absent in available genomic datasets showed a significant burden in epilepsy-affected individuals compared with control individuals, and the ultra-rare pathogenic variants associated with DEE were located in more intolerant genic sub-regions than variants associated with non-DEE epilepsies. MTR filtering improved the yield of ultra-rare pathogenic variants in affected individuals compared with control individuals. Finally, analysis of variants in genes without a disease association revealed a significant burden of loss-of-function variants in the genes most intolerant to such variation, indicating additional epilepsy-risk genes yet to be discovered. Taken together, our study suggests that genic and sub-genic intolerance are critical characteristics for interpreting the effects of variation in genes that influence epilepsy
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice
A fatal dermatosis in the emergency department: toxic epidermal necrolysis
Toxic Epidermal Necrolysis (TEN) is acute life-threatening mucocutaneous reactions, which are mainly induced by drugs. The annual incidence is 0.51.2 cases per million population and the mortality rate is 2030%. The genetic background associated with drug hypersensitivity is very important in the development of TEN. Antimicrobials and anticonvulsants are most commonly associated with the development of TEN. TEN is a disease which acutely starts and has prodromes such as cough lasting 1-3 days, throat ache, burning eyes, arthralgia before the disease. Intraoral erosion is a constant result. Sepsis and respiratory insufficiency were the most important complications in TEN. The main therapy are drugs used by the patient were stopped, systemic corticosteroid and supportive treatment. The aim of our study is recognized of TEN by emergency physicians. [Med-Science 2016; 5(4.000): 1027-9