14459 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• Characterizing the Neurobehavioral Phenotype(s) in MPS III (Pilot Study)

  Mucopolysaccharidosis III (MPSIII) syndrome is characterized by a severe cognitive decline ending in dementia and death. MPSIII is also associated with a range of abnormal and disruptive behaviors that can include, but go well beyond, childhood noncompliance and oppositionality. The purpose of this study is to conduct a cross-sectional investigation to identify the behavioral phenotype and its neural basis in MPSIII. An overall goal of this research is to develop easily administered, sensitive and specific neurobehavioral markers to characterize the behavioral phenotype(s) of MPSIII, track their progression, and to delineate their possible neural substrates. The study looks to develop develop a sensitive and specific behavioral rating of disease progression in MPS III which can be used for clinical outcome studies. The research objectives are: Develop a measure for the use of health professionals to use in tracking MPSIII phenotypes and disease progression. Test our model of MPSIII with objectively recorded behaviors in a well-defined experimental setting. Elucidate the neural bases of MPSIII by correlating behavioral profiles with changes in brain structures through quantitative neuroimaging. Determine the relationship between the loss of cognitive functions and development of behavioral abnormalities in MPSIII. This is an observational pilot study that will enroll 45 individuals with MPS III Type A or B. Those participating in the study will be evaluated during a one-day assessment and chart review.

  Study phs001330

• NIH RECOVER: A Multi-Site Pathology Study of Post-Acute Sequelae of SARS-CoV-2 Infection

  The RECOVER tissue pathology study is a cross-sectional study designed to define and characterize the epidemiology, natural history, clinical spectrum, and underlying mechanisms of post-acute effects of SARS-CoV-2 infection in a diverse population representative of the general COVID-19 population in the US. The autopsy study will characterize the pathology of PASC in decedents who die more than 60 days after initial onset or after hospital discharge, whether in-hospital or out-of-hospital at time of death, and who meet the working definition of PASC as defined by the recent World Health Organization publication given in Section 5.4. The autopsy study will also explore the pathology of acute SARS-CoV-2 infection in a smaller subset of decedents who died between15-60 days from symptom onset. This protocol defines the common set of clinical data elements, autopsy procedures for tissue collection, core measures, pathology protocols, shared pathology tissues, data elements, and methodology. Each investigator site is expected to perform autopsies on the decedents to address the pathophysiology of the potential long-term effects of SARS-CoV-2 infection on human health. The Consortium analysis plan aims to address research questions by incorporating: 1) tissue obtained from autopsies performed at each Phase II participant's site; and 2) tissue available from other pathology investigators/autopsy sites within the Consortium.

  Study phs003768

• Whole Genome Study for De Novo Mutation Rates

  Germline mutations are the source of evolution and contribute substantially to many health-related processes. In this study, we use whole genome deep sequencing data from parents-offspring trios to examine the de novo point mutations (DNMs) in the offspring. We studied correlation between parental ages with de novo mutation rates. This study is published in Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, Niederhuber JE. New observations on maternal age effect on germline de novo mutations. Nat Commun. 2016 Jan 19;7:10486 (PMID: 26781218. Also, we studied differences in molecular signatures in paternal versus maternal origin of de novo mutations. This study is published in Jakob M. Goldmann, Wendy S.W. Wong, Michele Pinelli, Terry Farrah, Dale Bodian, Anna B. Stittrich, Gustavo Glusman, Lisenka E.L.M. Vissers, Alexander Hoischen, Jared C. Roach, Joseph G. Vockley, Joris A. Veltman, Benjamin D. Solomon, Christian Gilissen, John E. Niederhuber. Parent-of-origin specific signatures of de novo mutations. Nat Genet. 2016 Aug;48(8):935-9, PMID: 27322544.

  Study phs001055

• Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Northern Manhattan Study (NOMAS)

  Cohort Description The Northern Manhattan Study (NOMAS) is a study of the population of Washington Heights in Northern Manhattan. The ongoing study, which began in 1990, has enrolled over 4,400 people, some of whom have suffered a stroke or related neurological syndromes. As the cohort aged, the specific aims grew to include not only vascular determinants of stroke but also cognitive decline, mild cognitive impairment (MCI) and dementia. The overall goal of NOMAS is to investigate stroke risk factors in different race-ethnic groups. NOMAS is also committed to developing better stroke prevention programs to improve the health of the community. The Hispanic population in Northern Manhattan is largely Dominican, along with Puerto Rican, Cuban, and Central and South American components.Data Being Submitted Wave 1 questionnaire data includes 397 variables for up to 887 NOMAS participants in C4R Wave 2 questionnaire data includes 448 variables for up to 815 NOMAS participants in C4R Derived data includes 43 variables for up to 995 NOMAS participants in C4R Phenotype data includes 113 variables for up to 995 NOMAS participants in C4R

  Study phs003028

• Description and determinants of the faecal resistome and microbiome of farmers and slaughterhouse workers: a metagenome-wide cross-sectional study.

  Within this study, we extracted DNA of 194 stool samples of persons living or working on pig and broiler farms (54 pig farmers, 24 broiler farmers), 70 pig slaughterhouse workers and 46 control subjects (Lifelines population living in the Northern parts of the Netherlands, and without recent antimicrobial use and occupational livestock contact). Total DNA was sequenced and metagenomic analysis was performed. Subsequently, the faecal resistomes and microbiomes were described and analysed (doi: 10.1016/j.envint.2020.105939). Highlights study: • Food chain workers are exposed to antimicrobial resistant (AMR) bacteria in livestock. • We describe faecal resistomes and microbiomes of farmers and slaughterhouse workers. • Faecal AMR gene loads in pork exposed workers exceed those in broiler farmers/controls. • Resistome and microbiome differences are shown between and within occupational groups. • On-farm working hours and working/living on a pig farm determine the faecal resistome. • Contact with livestock may be a determinant for human AMR gene carriage. This study is part of the EFFORT project: http://www.effort-against-amr.eu/.

  Study EGAS00001003944

• VIKING Health Study - Shetland 30X WGS

  30x whole genome sequencing of samples from the VIKING Health Study - Shetland. 500 DNA samples were sequenced using the Illumina HiSeq X system. FASTQ files are deposited

  Dataset EGAD00001005378

• Macrophage polarisation to M1 and M2 phenotypes

  iPSC-derived macrophages were polarised with LPS/IFN-gamma or IL4 to M1 and M2 phenotypes, respectively.

  Study EGAS50000000820

• Low pass WGS from High-grade B-cell lymphoma, not otherwise specified: an LLMPP study

  Low pass whole genome sequencing from 46 samples from High-grade B-cell lymphoma, not otherwise specified: an LLMPP study

  Dataset EGAD50000001367

• The Extracellular RNA Quality Control (exRNAQC) study (phase 1)

  mRNA capture sequencing and small RNA sequencing data (FASTQ files) of the exRNAQC study phase 1.

  Dataset EGAD00001007697

• WES data for Family 2 from optic atrophy study

  The dataset includes the BAM files from WES experiments performed on a proband presenting with syndromic optic atrophy and his healthy parents - Family 2 in our study

  Dataset EGAD00001005344