Mitochondrial genomic analysis of late onset alzheimers disease reveals protective haplogroups H6A1A/H6A1B: the Cache County study on memory in aging

pre-printBackground: Alzheimer's disease (AD) is the most common cause of dementia and AD risk clusters within families. Part of the familial aggregation of AD is accounted for by excess maternal vs. paternal inheritance, a pattern consistent with mitochondrial inheritance. The role of specific mitochondrial DNA (mtDNA) variants and haplogroups in AD risk is uncertain. Methodology/Principal Findings: We determined the complete mitochondrial genome sequence of 1007 participants in the Cache County Study on Memory in Aging, a population-based prospective cohort study of dementia in northern Utah. AD diagnoses were made with a multi-stage protocol that included clinical examination and review by a panel of clinical experts. We used TreeScanning, a statistically robust approach based on haplotype networks, to analyze the mtDNA sequence data. Participants with major mitochondrial haplotypes H6A1A and H6A1B showed a reduced risk of AD (p = 0.017, corrected for multiple comparisons). The protective haplotypes were defined by three variants: m.3915G.A, m.4727A.G, and m.9380G.A. These three variants characterize two different major haplogroups. Together m.4727A.G and m.9380G.A define H6A1, and it has been suggested m.3915G.A defines H6A. Additional variants differentiate H6A1A and H6A1B; however, none of these variants had a significant relationship with AD case-control status. Conclusions/Significance: Our findings provide evidence of a reduced risk of AD for individuals with mtDNA haplotypes H6A1A and H6A1B. These findings are the results of the largest study to date with complete mtDNA genome sequence data, yet the functional significance of the associated haplotypes remains unknown and replication in others studies is necessary

Development of a 50 kW wireless power transfer system

A high-power modular wireless power transfer system has been developed intended for use in larger vehicles. This paper presents the design methodology and evolution of the system, including test results. The system utilises SiC switching devices and an 85 kHz operating frequency. 50 kW of wireless power transfer has been achieved over a 200 mm gap at 89% efficiency, showing good promise for the system

A novel axial flux permanent magnet generator for wind turbines

This paper presents the development of a framework used to optimize and experimentally validate a novel axial flux direct-drive (DD) permanent magnet generator (PMG) for the offshore wind turbine market. This technology aims to offer significant levelized cost of energy (LCoE) reductions via capital expenditure and operating expense (CAPEX and OPEX) savings – a key objective for the offshore industry. The DD-PMG technology uses ferrite magnets to create the magnetic field, which is a significant source of cost reduction. The use of ferrite could also eliminate an industry wide reliance on Neodymium Iron Boron (NdFeB), the scarce and expensive rare-earth magnet used in existing designs. Another advantage of a ferrite-based design is that it’s less sensitive to the cooling problems that currently face existing DD-PMGs. This paper describes the development and testing of two prototype machines at nominal 2 kW and 70 kW power ratings. Moreover, the finite element analysis (FEA) and analytical steps employed to develop optimized designs together with the experimental verification are presented. The simulated and experimental results show good agreement which provides confidence in the design and modelling work completed

Interpretation of the ORHASP Report for the Scarboro Community

The Oak Ridge Health Agreement Steering Panel (ORHASP) Report is a human health risk assessment of the effects of the activities of the three United States Department of Energy facilities in Oak Ridge, Tennessee. The period covered is 1944 to 1995. The study started in 1991 and it was completed in 1999. The ORHASP Report is available to the public. This report has three goals. These follow: 1) To put relevant results from the ORHASP Report in a more readily and easily comprehended form.2) To examine some air intake parameters used in the ORHASP Report for the Scarboro Community.3) To check some risk and hazard index results for the Scarboro Community that were presented in the ORHASP Report. This research was completed money allocated during Round 3 of the Citizens’ Monitoring and Technical Assessment Fund (MTA Fund). Clark University was named conservator of these works. If you have any questions or concerns please contact us at [email protected]://commons.clarku.edu/score/1000/thumbnail.jp

Engaging the postgraduate student voice for enhancement of learning and teaching

Postgraduate (PG) courses are undertaken for a variety of reasons and in many different formats across the three faculties (Faculty of Health Education and Society, Faculty of Business and Law and the Faculty of Art, Science and Technology) within the University of Northampton, (UON). PG students’ engagement, especially minority groups and part time students, are historically underrepresented with teaching and learning often devolved from undergraduate courses or professional doctorate courses. This underrepresented student body require a stronger network to engage, discuss and target their specific requirements within the university. Dissertation students’ satisfaction at UON in the latest PTES, (2022) survey is below the sector average.Postgraduate studies frequently occur when students are raising families, working full time and busy meeting personal objectives. During this life-phase, engagement with the university community is difficult. However, this student group have skills and knowledge to enhance their own learning and teaching requirements which may strengthen the student experience and promote engagement. Enhancing the student voice within the PG community and across faculties will aid communication and the objectives identified within the Access and Participation Plan (APP) relating to attainment, retention and progression by ethnicity and IMD/POLAR characteristics.This project concept was developed from the recommendations of a previously successful innovation bid, “Converting Willingness to Engagement” which targeted PG health professionals within FHES. It identified under representation within the professional postgraduate community. The Postgraduate student voice, particularly at Master's level (L7), has been nationally identified as under-represented (PTES, 2022). This project explored how these students, deemed at risk of unconscious bias, intersectional students, the ethnical diverse and part time students can create a student voice and provide practical outcomes in terms of recommendations for all faculties

Engaging the postgraduate student voice for enhancement of learning and teaching

Postgraduate (PG) courses are undertaken for a variety of reasons and in many different formats across the three faculties (Faculty of Health Education and Society, Faculty of Business and Law and the Faculty of Art, Science and Technology) within the University of Northampton, (UON). PG students’ engagement, especially minority groups and part time students, are historically underrepresented with teaching and learning often devolved from undergraduate courses or professional doctorate courses. This underrepresented student body require a stronger network to engage, discuss and target their specific requirements within the university. Dissertation students’ satisfaction at UON in the latest PTES, (2022) survey is below the sector average.Postgraduate studies frequently occur when students are raising families, working full time and busy meeting personal objectives. During this life-phase, engagement with the university community is difficult. However, this student group have skills and knowledge to enhance their own learning and teaching requirements which may strengthen the student experience and promote engagement. Enhancing the student voice within the PG community and across faculties will aid communication and the objectives identified within the Access and Participation Plan (APP) relating to attainment, retention and progression by ethnicity and IMD/POLAR characteristics.This project concept was developed from the recommendations of a previously successful innovation bid, “Converting Willingness to Engagement” which targeted PG health professionals within FHES. It identified under representation within the professional postgraduate community. The Postgraduate student voice, particularly at Master's level (L7), has been nationally identified as under-represented (PTES, 2022). This project explored how these students, deemed at risk of unconscious bias, intersectional students, the ethnical diverse and part time students can create a student voice and provide practical outcomes in terms of recommendations for all faculties

Power electronics packaging for in-road wireless charging installations

When power electronics are deployed under the road surface as part of a wireless system it is important to know that their packaging provides adequate heat extraction as well as the required environmental protection - often conflicting requirements. Presently very little can be found in wireless charging standards and literature on the topic of thermal modelling for in-ground components. Yet, this is a topic of great practical significance especially for in-road systems. Traditional cooling methods are not readily applicable underground. This paper uses finite element thermal modelling to investigate the cooling of a representative medium-power in-road wireless system, housed in a sealed ground assembly (GA) chamber and installed to UK requirements (HAUC). The paper quantitatively compares design options and provides practical recommendations for in-road installation thermal management

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent

Purpose: The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the role of the gene in the autosomal recessive disease Brittle Cornea Syndrome. Coding variants in ZNF469 have been assessed for association with keratoconus in several small studies, with conflicting results. We assessed rare, potentially pathogenic variants in ZNF469 for enrichment in keratoconus patients in a cohort larger than all previous studies combined. Methods: ZNF469 was sequenced in 385 Australian keratoconus patients of European descent, 346 population controls, and 230 ethnically matched screened controls by either whole exome sequencing or targeted gene sequencing. The frequency of rare and very rare potentially pathogenic variants was compared between cases and controls using χ2 or Fisher\u27s exact tests and further explored using a gene based test (Sequence Kernel Association Test [SKAT]), weighting on the rarity of variants. Results: A total of 49 rare, including 33 very rare, potentially pathogenic variants were identified across all groups. No enrichment of rare or very rare potentially pathogenic variants in ZNF469 was observed in our cases compared to the control groups following analysis using χ2 or Fisher\u27s exact tests. This finding was further supported by the SKAT results, which found no significant difference in the frequency of variants predicted to be damaging between cases and either control group (P = 0.06). Conclusions: Rare variants in ZNF469 do not contribute to keratoconus susceptibility and do not account for the association at rs9938149

Data mining for ontology development.

A multi-laboratory ontology construction effort during the summer and fall of 2009 prototyped an ontology for counterfeit semiconductor manufacturing. This effort included an ontology development team and an ontology validation methods team. Here the third team of the Ontology Project, the Data Analysis (DA) team reports on their approaches, the tools they used, and results for mining literature for terminology pertinent to counterfeit semiconductor manufacturing. A discussion of the value of ontology-based analysis is presented, with insights drawn from other ontology-based methods regularly used in the analysis of genomic experiments. Finally, suggestions for future work are offered

ACR appropriateness criteria® nasal cavity and paranasal sinus cancers

The American College of Radiology (ACR) Appropriateness Criteria are evidence‐based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer‐reviewed journals and the application of well‐established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment. Here, we present the Appropriateness Criteria for cancers arising in the nasal cavity and paranasal sinuses (maxillary, sphenoid, and ethmoid sinuses). This includes clinical presentation, prognostic factors, principles of management, and treatment outcomes. Controversies regarding management of cervical lymph nodes are discussed. Rare and unusual nasal cavity cancers, such as esthesioneuroblastoma and sinonasal undifferentiated carcinomas, are included. © 2016 American College of Radiology. Head Neck, 2016 © 2016 Wiley Periodicals, Inc. Head Neck 39: 407–418, 2017Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/136245/1/hed24639.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/136245/2/hed24639_am.pd