In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, ...such as those generated by segmental duplications. The
locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
Whole exome, whole genome and long-read DNA sequencing techniques combined with studies of RNA and quantitative proteomics were used to investigate 17 subjects from 16 unrelated families with suspected mitochondrial disease.
We report six different
duplications in the
gene locus causing a distinctive presentation including lethal perinatal cardiomyopathy, persistent hyperlactacidemia, and frequently corneal clouding or cataracts and encephalopathy. The recurrent 68 Kb
duplications are identifiable from genome and exome sequencing but usually missed by microarrays. The
duplications result in the formation of identical chimeric ATAD3A/ATAD3C proteins, altered ATAD3 complexes and a striking reduction in mitochondrial oxidative phosphorylation complex I and its activity in heart tissue.
duplications appear to act in a dominant-negative manner and the
inheritance infers a low recurrence risk for families, unlike most pediatric mitochondrial diseases. More than 350 genes underlie mitochondrial diseases. In our experience the
locus is now one of the five most common causes of nuclear-encoded pediatric mitochondrial disease but the repetitive nature of the locus means
diagnoses may be frequently missed by current genomic strategies.
Australian NHMRC, US Department of Defense, Japanese AMED and JSPS agencies, Australian Genomics Health Alliance and Australian Mito Foundation.
Objective. To determine if an educational intervention in a doctor of pharmacy (PharmD) degree program increases pharmacy students’ ability to identify plagiarism.
Methods. First-year (P1), ...second-year (P2), and third-year (P3) pharmacy students attended an education session during which types of plagiarism and methods for avoiding plagiarism were reviewed. Students completed a preintervention assessment immediately prior to the session and a postintervention assessment the following semester to measure their ability.
Results. Two hundred fifty-two students completed both preintervention and postintervention assessments. There was a 4% increase from preintervention to postintervention in assessment scores for the overall student sample (p<0.05). The mean change was greatest for P1 and P2 students (5% and 4.8%, respectively).
Conclusion. An educational intervention about plagiarism can significantly improve students’ ability to identify plagiarism.
Kokua Kalihi Valley, a federally qualified health center in Hawaii, collaborated with the National Heart, Lung, and Blood Institute to test the efficacy of community health workers (CHWs) to deliver ...the Healthy Heart, Healthy Family curriculum to low-income Filipinos with cardiovascular disease (CVD) risk factors. At 12 months, significant improvements were seen in health behaviors, knowledge, and self-efficacy in managing chronic diseases. We also observed decreases in total cholesterol from 186.25 mg/dl to 170.88 mg/dl (p=.001), low-density lipoprotein from 114.43 mg/dl to 103.04 mg/dl (p=.013), and fasting blood glucose from 117.95 mg/dl to 109.07 mg/dl (p=.034). Although these changes were statistically significant, they are small and not clinically meaningful in reducing CVD risk. The high-density lipoprotein was 3.3 mg/dl lower (worse) at 12 months (p=.003), mean values for blood pressure, BMI, and waist circumference increased. Community health workers can be trained to deliver evidence-based curricula that improve health behaviors and increase self-efficacy in managing chronic diseases.
To determine if an educational intervention in a doctor of pharmacy (PharmD) degree program increases pharmacy students' ability to identify plagiarism. First-year (P1), second-year (P2), and ...third-year (P3) pharmacy students attended an education session during which types of plagiarism and methods for avoiding plagiarism were reviewed. Students completed a preintervention assessment immediately prior to the session and a postintervention assessment the following semester to measure their ability. Two hundred fifty-two students completed both preintervention and postintervention assessments. There was a 4% increase from preintervention to postintervention in assessment scores for the overall student sample (p<0.05). The mean change was greatest for P1 and P2 students (5% and 4.8%, respectively). An educational intervention about plagiarism can significantly improve students' ability to identify plagiarism.
The purpose of this paper is multifold.Key aspects discussed include exploring the extent of theory discussion and progression in social work journals for the year 2004; discussing the necessity of ...theory in social work research and practice; reviewing previous research literature regarding evaluation of theory discussion and progression; proposing criteria for defining theory in social work journals; and presenting
findings from the current study concerning theory discussion and progression in social work journals. Results: Of the 1,168 articles reviewed from 37 journals, 71 (approximately 6%) met the criteria for theory development with empirical base.
Thus, a minimal number of articles (3 out of 71 or 4.2%) evaluated, based on the criteria in the theory quality scale (Table 1), received high quality ratings. Conclusion:
Based on the results yielded by the analysis, we assert that social workers need to make a conscious effort to include theory in practice decisions.
This international handbook reflects on the development of the field of technology education. From reviewing how the field has developed and its current strengths, consideration is given to where the ...field might go and how it can be supported in this process.
This evaluation of the Compton, California, 1969-1975 Bilingual-Bicultural Project begins by describing the demographic and socioeconomic features of the school area and its need for the bilingual ...approach. Summaries of the evaluation reports prepared at the end of each year are presented. Summaries include descriptions of the experimental design. These reports focus on measuring changes in children by means of language, reading, and math achievement tests. Following the report for the last year, a general overview of program effects as related to changes in children is presented. The report concludes with a discussion of each of four basic components: instruction, acquisition and development of materials, staff development, and parent participation and community involvement. A reference bibliography for bilingual-bicultural education follows this discussion. (CLK)
This report presents an evaluation of a bilingual education plan in its second year of operation. The major emphasis is on establishing a comprehensive, experimental, educational program utilizing ...the native language abilities of Spanish-speaking children as the primary medium of instruction until such time as the student is bilingual and capable in both English and Spanish. The program's hypothesis and design are discussed as are the personnel involved. The program and its scope are described, as are the bilingual-bicultural curriculum; acquisition, adaptation, and development of materials; and procedures for kindergarten and first and second grades. Community involvement and bilingual education as a tool for positive social change are considered. Finally, there is a discussion of staff development, budget requirements, and results. (VM)
Step-by-step: Pony for pleasure Compton, Troy; Pryor, Carolyn S
Horse & rider,
08/1993, Letnik:
32, Številka:
8
Magazine Article
Ponying, or leading, another horse while riding is a good simulation of rail crowding and can help a horse overcome traffic-related nervousness. The steps to take when ponying are discussed.
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