Development of an intelligent hypertext manual for the space shuttle hazardous gas detection system

A computer-based Integrated Knowledge System (IKS), the Intelligent Hypertext Manual (IHM), is being developed for the Space Shuttle Hazardous Gas Detection System (HGDS) at the Huntsville Operations Support Center (HOSC). The IHM stores all HGDS related knowledge and presents them in an interactive and intuitive manner. The IHM's purpose is to provide HGDS personnel with the capabilities of: enhancing the interpretation of real time data; recognizing and identifying possible faults in the Space Shuttle sub-system related to hazardous gas detections; locating applicable documentation related to procedures, constraints, and previous fault histories; and assisting in the training of personnel

Cervical dystonia incidence and diagnostic delay in a multiethnic population.

BackgroundCurrent cervical dystonia (CD) incidence estimates are based on small numbers in relatively ethnically homogenous populations. The frequency and consequences of delayed CD diagnosis is poorly characterized.ObjectivesTo determine CD incidence and characterize CD diagnostic delay within a large, multiethnic integrated health maintenance organization.MethodsWe identified incident CD cases using electronic medical records and multistage screening of more than 3 million Kaiser Permanente Northern California members from January 1, 2003, to December 31, 2007. A final diagnosis was made by movement disorders specialist consensus. Diagnostic delay was measured by questionnaire and health utilization data. Incidence rates were estimated assuming a Poisson distribution of cases and directly standardized to the 2000 U.S. census. Multivariate logistic regression models were employed to assess diagnoses and behaviors preceding CD compared with matched controls, adjusting for age, sex, and membership duration.ResultsCD incidence was 1.18/100,000 person-years (95% confidence interval [CI], 0.35-2.0; women, 1.81; men, 0.52) based on 200 cases over 15.4 million person-years. Incidence increased with age. Half of the CD patients interviewed reported diagnostic delay. Diagnoses more common in CD patients before the index date included essential tremor (odds ratio [OR] 68.1; 95% CI, 28.2-164.5), cervical disc disease (OR 3.83; 95% CI, 2.8-5.2), neck sprain/strain (OR 2.77; 95% CI, 1.99-3.62), anxiety (OR 2.24; 95% CI, 1.63-3.11) and depression (OR 1.94; 95% CI, 1.4-2.68).ConclusionsCD incidence is greater in women and increases with age. Diagnostic delay is common and associated with adverse effects. © 2019 International Parkinson and Movement Disorder Society

Stepping Up for Community Amidst COVID-19, Xenophobia, and Violence: A Survey of Nonprofits Serving Asian Americans, Native Hawaiians, and Pacific Islanders

The COVID-19 pandemic has exposed stark inequities in many aspects of American society including economic opportunity, access to healthcare, access to childcare, ability  to navigate public systems, and more. Asian American (AA) and Native Hawaiian and Pacific Islander (NHPI) communities were adversely affected by the pandemic in distinct ways because of the rising xenophobia and ongoing invisibilization of their people, resulting in rising anti-Asian hate as well as COVIDrelated deaths and struggles that were not seen or not counted in the public's eye. Amidst all that happened during the pandemic, the first responders for many AANHPI communities were the nonprofits that held close relationships with their community members.AAPI Data partnered with Asian Americans and Pacific Islanders in Philanthropy (AAPIP) to conduct a first-of-its-kind survey to capture the experiences of nonprofits serving AA and NHPI communities – who they are, the challenges and barriers they experienced, and how they met the moment during the COVID-19 pandemic.Â

The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from

Construction of shRNA vectors against BTB-Kelch substrate adaptor proteins [abstract]

Abstract only availableFaculty Mentor: Mark Hannink, BiochemistryThe BTB-Kelch substrate adaptor proteins are proteins that contain an N-terminal BTB and a C-terminal Kelch domain. These proteins function as substrate adaptors for protein ubiquination. BTB-Kelch substrate adaptor proteins may influence the differentiation of C2C12 myoblasts into myotubules. To better understand the role of BTB-Kelch proteins for the differentiation of myoblasts cells, we designed short hairpin RNA (shRNA) molecules to inhibit mRNA expression of five BTB-Kelch proteins found in Mus musculus (mouse). These proteins are: klhl9, klhl24, kbtbd8, klhdc8b, and Enc1. Expression vectors for the shRNAs were constructed using pSico and pSicoR, which are lentiviral vectors that contain an internal U6 promoter for expression of a shRNA molecule and a CMV-GFP cassette. Positive clones were identified by restriction mapping. Positive clones were purified and sequenced. The plasmid DNAs were transfected into 293T cells to generate virus. The viruses were used to infect C2C12 myoblasts. Two days after infection, the cells will be examined for GFP expression, which will show a green fluorescent marker in the infected cells verifying successful uptake of the virus. Further analysis will identify any differences in the differentiation of C2C12 myoblasts into myotubules following shRNA-mediated knockdown of these BTB-Kelch proteins

The phenotype of floating-harbor syndrome:clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background\ud Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome.\ud \ud Methods and results\ud Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations.\ud \ud Conclusions\ud This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.The authors would like to thank the families for their cooperation and permission to publish these findings. SdM would like to thank Barto Otten. Funding was provided by the Government of Canada through Genome Canada, the Canadian Institutes of Health Research (CIHR) and the Ontario Genomics Institute (OGI-049), by Genome Québec and Genome British Columbia, and the Manton Center for Orphan Disease Research at Children’s Hospital Boston. KMB is supported by a Clinical Investigatorship Award from the CIHR Institute of Genetics. AD is supported by NIH grant K23HD073351. BBAdV and HGB were financially supported by the AnEUploidy project (LSHG-CT-2006-37627). This work was selected for study by the FORGE Canada Steering Committee, which consists of K. Boycott (University of Ottawa), J. Friedman (University of British Columbia), J. Michaud (University of Montreal), F. Bernier (University of Calgary), M. Brudno (University of Toronto), B. Fernandez (Memorial University), B. Knoppers (McGill University), M. Samuels (Université de Montréal), and S. Scherer (University of Toronto). We thank the Galliera Genetic Bank - “Telethon Genetic Biobank Network” supported by Italian Telethon grants (project no. GTB07001) for providing us with specimens

More than a piece of cake:Noun classifier processing in primary progressive aphasia

INTRODUCTION: Clinical understanding of primary progressive aphasia (PPA) has been primarily derived from Indo-European languages. Generalizing certain linguistic findings across languages is unfitting due to contrasting linguistic structures. While PPA patients showed noun classes impairments, Chinese languages lack noun classes. Instead, Chinese languages are classifier language, and how PPA patients manipulate classifiers is unknown. METHODS: We included 74 native Chinese speakers (22 controls, 52 PPA). For classifier production task, participants were asked to produce the classifiers of high-frequency items. In a classifier recognition task, participants were asked to choose the correct classifier. RESULTS: Both semantic variant (sv) PPA and logopenic variant (lv) PPA scored significantly lower in classifier production task. In classifier recognition task, lvPPA patients outperformed svPPA patients. The classifier production scores were correlated to cortical volume over left temporal and visual association cortices. DISCUSSION: This study highlights noun classifiers as linguistic markers to discriminate PPA syndromes in Chinese speakers. Highlights: Noun classifier processing varies in the different primary progressive aphasia (PPA) variants. Specifically, semantic variant PPA (svPPA) and logopenic variant PPA (lvPPA) patients showed significantly lower ability in producing specific classifiers. Compared to lvPPA, svPPA patients were less able to choose the accurate classifiers when presented with choices. In svPPA, classifier production score was positively correlated with gray matter volume over bilateral temporal and left visual association cortices in svPPA. Conversely, classifier production performance was correlated with volumetric changes over left ventral temporal and bilateral frontal regions in lvPPA. Comparable performance of mass and count classifier were noted in Chinese PPA patients, suggesting a common cognitive process between mass and count classifiers in Chinese languages.</p

Effects of Two Commercial Electronic Prescribing Systems on Prescribing Error Rates in Hospital In-Patients: A Before and After Study

In a before-and-after study, Johanna Westbrook and colleagues evaluate the change in prescribing error rates after the introduction of two commercial electronic prescribing systems in two Australian hospitals