Karen H Harum

Learn More
Two unrelated patients with cryptic subtelomeric deletions of 22q13.3 were identified using FISH with the commercially available Oncor probe, D22S39. Proband 1 was found to have a derivative chromosome 22 resulting from the unbalanced segregation of a t(1;22)(q44;q13.32) in her mother. Additional FISH analysis of proband 1 and her mother placed the(More)
We describe the clinical phenotype in four males from three families with duplication (X)(qter-->q27::p22.3-->qter). This is an unusual duplication of the distal long arm segment, Xq27-qter, onto the distal short arm of the X chromosome at Xp22.3, as shown by fluorescent in situ hybridization analysis with multiple X-specific probes. The patients are young(More)
Determinants of dural defects subsequent to deliberate or accidental dural puncture include the equipment, techniques, and the inherent anatomic and biomechanical properties of dura mater. These properties were studied in specimens of human and canine lumbar dura mater in an attempt to delineate the structure of the tissue and to characterize its behavior(More)
Cognitive disorders in children have traditionally been described in terms of clinical phenotypes or syndromes, chromosomal lesions, metabolic disorders, or neuropathology. Relatively little is known about how these disorders affect the chemical reactions involved in learning and memory. Experiments in fruit flies, snails, and mice have revealed some highly(More)
A 5-year old girl with cerebral palsy (CP), preterm birth, postnatal aortic thrombus, and cerebellar venous infarction who is homozygous for the thrombophilic factor-V Leiden (fVL) mutation is reported. The role of hereditary thrombophilic disorders in the development of perinatal vascular lesions such as aortic thrombi, renal-vein thrombosis, venous-sinus(More)
Memory, the ability to store and retrieve information, is essential for learning in children. Modern neurobiology research is revealing some of the fundamental steps that encode memories within networks of neuronal synaptic connections in the brain. Somewhat different networks store verbal declarative memories and habit or procedural memories. Several(More)
BACKGROUND We investigated the potential of magnifying endoscopy for diagnosis of histologic gastritis in the gastric antrum. In addition, we investigated whether magnifying endoscopy can be applied for evaluation of Helicobacter pylori eradication therapy. METHODS We examined 176 Japanese patients including 53 with H. pylori eradication. We evaluated the(More)
BACKGROUND Gene expression and protein synthesis, mediated by the transcription factor CREB (cAMP response element binding protein), play an important role in learning and memory in several species, including Drosophila, snails, and mice. Patients with the X-linked disorder Coffin-Lowry syndrome (CLS) have cognitive disabilities, distinctive features, and(More)
The developing brain experiences major construction during fetal life and for at least the first decade of childhood. Many more neurons and synoptic connections are produced than are needed for later function, and the mature brain is what remains after these excess building materials are "sculpted" away. This process is thought to be the basis for the(More)
  • 1