Interrelationships between metabolism of glycogen phosphorylase and pyridoxal phosphate--implications in McArdle's disease.
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Animals↗
Biomedical subjects
A Flannery
Publications and source records attributed to A Flannery.
Two new cases of FMR1 deletion associated with mental impairment.
Screening of families clinically ascertained for the fragile X syndrome phenotype revealed two mentally impaired males who were cytogenetically negative for the fragile X chromosome. In both cases, screening for the FMR1 trinucleotide expansion mutation revealed a rearrangement within the FMR1 gene. In the first case, a 660-bp deletion is present in 40% of peripheral lymphocytes. PCR and sequence analysis revealed it to include the CpG island and the CGG trinucleotide repeat, thus removing the FMR1 promoter region and putative mRNA start site. In the second case, PCR analysis demonstrated that a deletion extended from a point proximal to FMR1 to 25 kb into the gene, removing all the region 5' to exon 11. The distal breakpoint was confirmed by Southern blot analysis and localized to a 600-bp region, and FMR1-mRNA analysis in a cell line established from this individual confirmed the lack of a transcript. These deletion patients provide further confirmatory evidence that loss of FMR1 gene expression is indeed responsible for mental retardation. Additionally, these cases highlight the need for the careful examination of the FMR1 gene, even in the absence of cytogenetic expression, particularly when several fragile X-like clinical features are present.
Adult↗
Multiple meningiomas in a child.
We report the case of a 4-year, 5-month-old boy, who had unusual multiple meningiomas occurring simultaneously in the intracranial, intraorbital, and spinal spaces. All lesions were surgically excised and histologically proved. This is the youngest patient with multiple meningiomas without history of neurofibromatosis reported in the literature.
Cerebral Angiography↗
The clinical and radiological evaluation of absence of the corpus callosum.
A retrospective and prospective analysis of children with a diagnosis of complete absence of the corpus callosum (ACC) at the Children's Memorial Hospital in Chicago over a 5-year period was performed. The diagnosis was based on the computed tomography (CT) and/or magnetic resonance (MR) images. From this material, 105 children with a diagnosis of ACC were analyzed on the basis of clinical symptomatology and radiological studies (CT, MR and ultrasound). Eighty-three percent of our children were symptomatic. The most common symptoms and signs were macrocephaly with hydrocephalus and seizures. MR was the best radiological imaging modality for evaluating children with ACC and associated brain anomalies. The most common associated brain anomalies with ACC in decreasing frequency in our children were: interhemispheric cyst with hydrocephalus, Dandy-Walker malformation, migrational disorders, absence of the inferior vermis, cephaloceles and lipoma of the interhemispheric fissure.
Agenesis of Corpus Callosum↗
Calculation of 131I-ortho-iodohippurate absorbed kidney dose: a literature review.
Extensive information has been made available relative to the physical aspects necessary for calculation of radiation absorbed dose from radiopharmaceuticals. A similar data base for the biological factors involved in these calculations has not been documented as thoroughly. The authors present an extensive literature review for the radiation absorbed dose of 131I-ortho-iodohippurate and discuss the rationale for adjusting previously accepted values with new biodistribution information.
Humans↗
Posttraumatic pseudoaneurysm of the posterior meningeal artery associated with intraventricular hemorrhage.
A 22-year-old man sustained a severe head injury and had a torn posterior meningeal artery that caused massive intraventricular hemorrhage. Traumatic pseudoaneurysm of the posterior meningeal artery should be considered in cases where intraventricular hemorrhage occurs in the presence of occipital bone fracture and contiguous epidural hematoma; vertebral angiography is of value in this regard.
Adult↗