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)
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)
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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