Rhonda M. Jack

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OBJECTIVE To investigate catecholamine phenotypes and the effects of a tyrosine hydroxylase inhibitor in individuals with the 22q11.2 deletion syndrome and low-activity catechol-O-methyltransferase (COMT). BACKGROUND Many persons with the 22q11.2 deletion syndrome suffer severe disability from a characteristic ultrarapid-cycling bipolar disorder and(More)
In Klebsiella pneumoniae, transcription of the nitrogen fixation (nif) genes is regulated in response to molecular oxygen or availability of fixed nitrogen by the coordinated activities of the nifA and nifL gene products. NifA is a nif-specific transcriptional activator, the activity of which is inhibited by interaction with NifL. Nitrogen control of NifL(More)
We report an infant with molybdenum cofactor deficiency (MCD) and a unique clinical presentation of hemiplegia, hypotonia, dystonia, and bilateral basal ganglia changes. Biochemistry revealed absent serum homocysteine, low concentrations of plasma cystine, high levels of urinary S-sulfocysteine and sulfite, and high levels of oxypurines in serum and urine.(More)
The clinical potential of circulating tumor cells (CTCs) in managing cancer metastasis is significant. However, low CTC isolation purities from patient blood have hindered sensitive molecular assays of these rare cells. Described herein is the ultra-pure isolation of CTCs from patient blood samples and how this platform has enabled highly specific molecular(More)
Studies in the United States (US) have reported varying treatment and survival for patients with high grade glioma from different ethnic groups. This study investigates for the first time whether differences also exist in the United Kingdom (UK). This population-based cohort study used cancer registration data for 4,845 patients diagnosed in South East(More)
The recent discovery of single graphene sheets and the remarkable technologies envisioned for graphene-based materials necessitate the ability to assemble and reproduce nano-precise graphene structures. Here we demonstrate an approach to create atomically precise single graphene structures by applying tensile load to single sheets of graphene that feature(More)
An infant girl was demonstrated to have D-2-hydroxyglutaric aciduria, the fifth case described and the first with muscle biopsy of this rare organic aciduria that differs clinically and genetically from the more common L-2-hydroxyglutaric aciduria. Her clinical features included mildly dysmorphic facies, developmental delay, generalized hypotonia, myoclonic(More)
Fifty-six subjects read positive or negative evaluations of their personality made by a bogus same-sex peer and then rated their immediate feelings. A second group of 22 subjects rated their feelings after reading the evaluations of a third person. It was found that personal evaluations evoked more spontaneous laughter than did the evaluation of a third(More)
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