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Jacksonville, Fla.
The purpose of this study is to address a knowledge gap. Early diagnosis of nerve root avulsion injuries following brachial plexus trauma remain a barrier to the early treatment of these complex injuries. Traditionally, an observation period of 6 months following brachial plexus injuries has been utilized to allow for reinnervation. Reinnervation is not possible in the setting of nerve root avulsion from the spinal cord and waiting for reinnervation in this setting unnecessarily delays treatment and potentially compromises outcome. Having the ability to provide a real time evaluation of nerve root integrity would obviate the need of other more expensive and complex advanced imaging such as CT/myelography, currently considered the good standard.
Rochester, Minn.
The purpose of this study is to build a National Registry of individuals with one of the group of primary immune deficiency diseases. A "Registry" is a list of basic information about people who have a certain disease or condition in common. These immune deficiency diseases are thought to be rare and include: Severe combined immunodeficiency (SCID), leukocyte adhesion deficiency (LAD), X-linked Agammaglobulinemia (XLA), common variable immune deficiency (CVID), DiGeorge syndrome (DGS), Hyper IgM syndrome (HIGM), Wiskott Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). We would like to contribute data on a number of subjects with these relatively rare diseases to this National Registry Data Base. The information will be age, sex, race or ethnic group, immunologic lab tests that were used to diagnose the condition, what complications may have occurred since the condition started, lung disease, blood changes, etc. and the results of various treatments used. The goal is to discover basic outcome data, ethnic, racial characteristics, kind of complications and useful treatments. You will not be contacted by anyone unless you authorize it. If a new study about you (or your child’s) immune defect comes up, your doctor will be notified, who can then share this with you to find out if you are interested in participating or not. Alternatively you may elect to be contacted directly by the Registry to determine your interest in participation.
The purpose of this study is to determine whether simultaneous treatment with spectacles and patching has an equivalent VA outcome compared with sequential treatment, first with spectacles alone, followed by patching (if needed), for previously untreated amblyopia in children 3 to < 13 years of age.
The purpose of this study is to compare the assessment of the composition of the fecal, nasal,oral and skin microbiota in patients with AD (cases) as compared to age/sex and diet matched control children without atopic dermatitis, and to apply mass-spectrometry-based metabolomic approach to analyzing fecal, nasal, oral and skin samples from cases, in order to characterize their biochemical metabolic profiles by comparison with those of their controls.
The purpose of this study is to assess the feasibility, acceptability, usability, and preliminary outcomes of a treatment protocol (FBT-PC) for PCP management of adolescent restrictive eating disorders.
You are being asked to take part in this research registry because you or your family member is suspected to have a 24-hydroxylase deficiency.
The purpose of this study is to evaluate the contribution of C. albicans to dysbiotic microbial communities of mucosal tissues in pediatric populations. Prospective sampling across multiples tissue sites in a pediatric cohort will be used to assess which tissues are colonized by C. albicans and associated with microbial dysbiosis seen in atopic dermitis.
We hypothesize presence of C. albicans in the microbial communities in early life is associated with atopy. We will assess the presence of C. albicans in the microbial communities of a population of children at-risk for atopic dermatitis compared to healthy controls who do not have an underlying risk for atopy based off family history. In tandem with the collection of human samples, we will utilize mouse models to validate the influence of C. albicans exposure during early life on the systemic immune populations.
Rochester, Minn., Jacksonville, Fla.
The purpose of this study is to establish the prevalence and severity of specific morbid indicators of disease severity such as specific organ system involvement, degree of cognitive disability, and case-fatality associated with various congenital disorders of glycosylation (CDG), and establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as provide a verified method to link these individuals to experts in CDG.
The first aim of this study is to verify that the TCR beta sequencing and curation platforms we will be using are able to identify patients with severe COVID-19 based on the TCR repertoires. This may be accomplished by testing and analyzing results between two cohorts: patients presenting acutely to MCF with mild COVID-19 and patients presenting with severe COVID-19. This will be accomplished by utilizing the the immunoSEQ Human T-cell Receptor Beta (hsTCB) Assay (Adaptive Biothechnologies) and the publicly available ImmuneCODE Open Access Database to confirm previously published data (PMID: 34253751). Both procedures will be performed by the company that created both platforms, Adaptive Biothechnologies.
The second aim of this study is to sequence the TCR receptors of participating patients and identify TCR motifs that may indicate a predisposition to (or protection from) severe SARS-CoV-2, leading to possible risk stratification of such patients, and whether or not age, gender or ethnicity has any contribution to said risk. This may require that we examine all three cohorts listed in the Subject Information section.
The third aim is to measure SARS-CoV-2 anti-spike and anti-nucleocapsid antibodies to distinguish patients that have not been exposed to SARS-CoV-2 to those that have been exposed.
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