A5030481553- Library Science and Information Systems
- Digital and Traditional Archives Management
- Library Science and Information Literacy
- Digital Rights Management and Security
- Lysosomal Storage Disorders Research
- Cystic Fibrosis Research Advances
- Hemoglobinopathies and Related Disorders
- Carbohydrate Chemistry and Synthesis
- Genetic factors in colorectal cancer
- Colorectal Cancer Screening and Detection
- Colorectal Cancer Treatments and Studies
- Research Data Management Practices
- Library Science and Administration
- Names, Identity, and Discrimination Research
- Web and Library Services
- Metabolism and Genetic Disorders
- Engineering Education and Curriculum Development
- Hematopoietic Stem Cell Transplantation
- Cytomegalovirus and herpesvirus research
- Information Systems Education and Curriculum Development
- Microfluidic and Bio-sensing Technologies
- Innovative Microfluidic and Catalytic Techniques Innovation
- Genomic variations and chromosomal abnormalities
- Microfluidic and Capillary Electrophoresis Applications
- Semantic Web and Ontologies
Dominican University
2014-2024
Baylor University
2023
University of Toronto
2023
Victoria School of Management
2023
Indiana University
2023
Massachusetts General Hospital
2013-2016
Harvard University
2015
Denver Health Medical Center
2011
University of Colorado Denver
2011
Mayo Clinic
1992-2003
The two known complementation groups of Niemann-Pick Type C disease, NPC1 and NPC2, result from non-allelic protein defects. Both the NPC2 (HE1) gene products are intimately involved in cholesterol glycolipid trafficking and/or transport. We describe mutation analysis on samples 143 unrelated affected NPC patients using conformation sensitive gel electrophoresis DNA sequencing as primary screening methods for respectively. These robust, sensitive, do not require any specialized laboratory...
Abstract Background: Current methods for molecular-based diagnosis of disease rely heavily on modern molecular biology techniques interrogating the genome aberrant DNA sequences. These typically include amplification target sequences followed by separation amplified fragments slab gel electrophoresis. As a result labor-intensive, time-consuming nature electrophoresis, alternative electrophoretic formats have been developed in form capillary electrophoresis and, more recently, multichannel...
Abstract This is the first description of slowly progressive Niemann–Pick disease type C (NPC) without typical lysosomal storage in bone marrow and viscera two descendants a group 17th century French‐Canadians. The index patient was married 43‐year‐old woman with onset dementia her thirties, later followed by development ataxia athetoid movements. Her autopsy disclosed frontal lobe atrophy, neurolysosomal oligolamellar inclusion tau‐positive neurofibrillary tangles. Of 119 family members...
Purpose Subject searching in the library catalog is a challenge for any user, but may be especially so members of marginalized groups whose language diverges even further from established systems subject headings. In this study, researchers employed concept code-switching to better understand linguistic divide that LGBTQ+ community face when formulating searches catalog. Design/methodology/approach Through set 15 interviews with adult users identifying as LGBTQ+, examined difference between...
We have evaluated the usefulness of denaturing high performance liquid chromatography (dHPLC) for scanning adenomatous polyposis coli (APC) gene point mutations, small deletions, and insertions. Our assay consists 28 sets primers to amplify 15 exons APC gene. All PCR reactions were amplified simultaneously using same reaction conditions in a 96-well format then analyzed by dHPLC, empirically determined optimum temperatures partial fragment denaturation. Previously studied DNA specimens from...
Discussions of quality in library cataloguing are traced from early science literature to current debates. Three studies that examine dimensions academic libraries, public and school libraries a review vendor processes update the issues surrounding definition bibliographic record assurance processes. The implications perceptions on next-generation catalogues presented with emphasis shift cataloguer's judgment rigid standards for transcription meeting requirement more metadata matches user...
This paper presents the results of a research study, survey library and information science master’s degree holders who have taken beginning cataloging course, to identify elements course that help students learn concepts skills. The suggest practice (the hands-on creation bibliographic records or catalog cards), effectiveness instructor, balance theory practice, placing in real-world context contribute effective learning. However, more is needed determine how, what extent, each element...
Bibliographic records can include information from controlled vocabularies to capture identities about individuals, especially authors or intended audiences; personal name authority also contain identity. Employing a systematic analysis of the overlap Homosaurus, Library Congress Subject Headings (LCSH), and Demographic Group Terms (LCDGT), this article explores extent which LGBTQ+ are represented in three vocabularies. Despite LCSH's long, iterative history development faceted,...
Critical race theory (CRT) is a framework that evolved from critical legal studies of the 1970s but has only recently been target intense scrutiny in education and politics. This article aims to describe CRT how it can frame issues within cataloging classification standards practice. tenets permanence racism, whiteness as property, critique liberalism, intersectionality, counter-storytelling, interest convergence are explored context work. Concepts "authority" "justice" also examined....
We report a novel mutation at α66(E15)Leu → Pro (α2) (CTG CCG), that we have named Hb Dartmouth for the medical center which patients were cared for, in monozygotic twins who also inherited Southeast Asian α-thalassemia-1 deletion. The mother, of Khmer ancestry, is heterozygous α-thalassemia-1. father, Scottish-Irish silent carrier codon 66 mutation. had severe neonatal anemia requiring transfusion.
Definitions of "quality cataloging" may differ from cataloger to and institution institution. If an objective definition quality is elusive, how can assess the cataloging work? This article discusses definitions in literature different ways it has been evaluated measured. Academic library catalogers' perceptions will also be explored, as well these are formed. The concludes by suggesting departments approach creation evaluation ethical manner.
More than 900 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been reported to (CF) consortium. A missense mutation, S1235R, was originally a CF patient with second mutation (G628R) on same chromosome. The clinical significance of S1235R not clear. is among commonly mutations, and it routinely screened for most laboratories. However, we detected allele at frequency that significantly higher many other mutations. Among more 3,000 patients tested either...
Twenty percent of colorectal cancers (CRCs) arise in people who have a family history CRC at least one other relative. Although fraction these CRCs are explained by two well-described autosomal dominant syndromes—5% hereditary nonpolyposis cancer (HNPCC) and 1% familial adenomatous polyposis (FAP)—the cause the remaining 14% aggregates is unknown. Many cases HNPCC due to germline mutations DNA mismatch repair genes, leading tumor phenotype microsatellite instability (MSI), most FAP caused...
This paper explores four main areas that will likely have an impact upon the future of information organization education. In particular, education must be prepared for continued shift from use traditional library cataloging standards to more web-compliant, linked-data standards. Also, there emphasis on ethical work and achievement behavioral competencies students interested in organization. Finally, addresses need educators improve their teaching ability order effectively impart importance...