Clinical Issues Associated with Urine Testing of Substances of Abuse

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90147/1/j.1875-9114.1997.tb03059.x.pd

Spinocerebellar ataxia 15: A phenotypic review and expansion

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Teaching at Worcester Technical High School

This paper documents my growth over the course of four months as a student teacher. Described in this work is the Massachusetts education system and my place within it. Specifically, evidence of my growth as an educator through a discussion of the six elements of CAP, candidate assessment of performance. Each of these elements is essential to effective teaching and while complete mastery is seldom met, I experienced tremendous growth in each of these areas as a result of my student teaching experience. In addition to a discussion of these elements, I have included an analysis of how my education at Worcester Polytechnic Institute influenced me as an educator as well as samples of student work, lesson plans and, student feedback

Chapter 11 Reorganization Policy and the Economic Viability of Filing Firms

The purpose of this study is to establish empirical proxies for the economic viability of firms in financial distress and to ascertain their role in reorganization policy. The data suggest that firms with stronger pre-bankruptcy operating performance, higher pre-bankruptcy leverage, and higher industry-adjusted market-to-book ratios exhibit stronger post-reorganization performance. Pre-bankruptcy industry performance, both the level of and the change in, suggests that firms in stronger industries perform better following reorganization. Pre-bankruptcy operating performance is negatively related, and firm size is positively related, to the length of time spent in court. Pre-bankruptcy operating performance is negatively related to the likelihood of subsequent restructuring or liquidation and positively related to the likelihood of being acquired. I find no evidence to suggest that pre-bankruptcy operating performance, leverage, or market-to-book ratios are significant factors in reorganization policy. Rather, firm size appears to be the primary determinant. Larger firms are more likely to be reorganized and smaller firms are more likely to liquidate

Keys For the Community for Improving Blood Lead Levels

Robeson County ranks last in North Carolina in its health factors and outcomes with its barriers being attributed to the existing economic and health disparities impacted by the built environment. Low income residents lack access to quality housing and are at risk of living in severe housing conditions that worsens their health outcomes. The reduction in the prevalence of substandard housing by addressing lead hazards is a strategy to address the severe housing problem. By using water sources to identify blood lead levels as the criteria for safety, Keys for Community (KFC) as an Accountable Care Community project, aims to increase safety in affordable housing in Robeson County by partnering with key stakeholders to identify and address elevated lead levels in plumbing sources that contribute to higher rates of exposure among young minority children.Master of Public Healt

Park Avenue Redesign

This project, on behalf of Stantec, Inc., aimed to redesign a section of Park Avenue in Worcester, MA with the goal of improving safety, efficiency, accessibility, and appearance. Existing conditions were documented and crash rate, level-of-service (using HCS 2010), and benefit-cost analyses were conducted. Potential improvement options were identified, evaluated, and the most viable were selected. Recommendations include: specific countermeasures and improvements to meet the goals, and suggested future actions for the continuation of this project