Biomedical subjects

Elizabeth Jacobson

Publications and source records attributed to Elizabeth Jacobson.

3 recordsLinked to original sources

PubMed2005

Distinctive clinical presentation of a NF-1 patient with loss of heterozygosity of PTCH in his epithelial tumors.

Although patients with neurofibromatosis (NF) have an increased incidence of tumors, there is only one study that suggests that NF1 patients may have an increased risk for epithelial malignancies. We present a patient with known NF1 who had developed multiple epithelial tumors since early in his life. All but one of these tumors were morphologically most consistent with trichoepitheliomas. Loss of heterozygosity (LOH) for Patched 1 gene (PTCH) was demonstrated within two of the trichoepitheloma-like tumors and one tumor diagnosed as basal cell carcinoma, and the patient was show to have a PTCH gene deletion. To our knowledge, a patient presenting with both NF1 and multiple trichoepitheliomas (MTE) has not previously been reported. The dysregulation in cellular proliferation and signaling induced by decreased NF1 along with the PTCH gene mutation may explain the pattern of immunohistochemical staining within these tumors, and the rare association of NF1 with epithelial neoplasms.

Adult↗

PubMed2004

Unexplained hypereosinophilia and the need for cytogenetic and molecular genetic analyses.

BACKGROUND: Idiopathic hypereosinophilic syndrome (HES) is a diagnosis made after the exclusion of other causes of eosinophilia. However, differentiation of idiopathic HES from eosinophilic leukemia is sometimes difficult. In some cases, these diagnoses can be differentiated by cytogenetic or molecular findings, as illustrated in the patients described herein. OBSERVATIONS: We describe 3 patients with HES and associated pruritus; 1 patient also had recurrent lesions of eosinophilic cellulitis. All 3 patients were initially diagnosed as having idiopathic HES, but after evaluation and demonstration of molecular abnormalities, they were classified as having eosinophilic leukemia. CONCLUSIONS: Patients with a diagnosis of idiopathic HES should be evaluated for cytogenetic or molecular genetic abnormalities. These abnormalities can establish a diagnosis of chronic eosinophilic leukemia and may provide clues for emerging therapies.

Antineoplastic Agents↗

PubMedDate not supplied

Probabilistic capture zone delineation based on an analytic solution.

A major tool used in the design of wellhead protection areas is the delineation of a capture zone for a pumping well by use of a simple, steady-state analytic solution. This simple approach has been useful for many small municipalities because of the high costs associated with obtaining the hydrogeologic information needed for detailed numerical modeling. This analytic solution, however, is deterministic, and uncertainty in the mean value estimates of the hydraulic parameters used in this model can be a major source of error in predicting capture zones. To address this problem, a statistical theory was developed for including the uncertainty in the transmissivity and the magnitude and direction of the hydraulic head gradient in the analytic solution for both the ultimate and time-dependent capture zone for an arbitrary reliability level. To demonstrate the method and investigate the effect of varying magnitudes of uncertainty on time-dependent capture zones, the method is applied to three synthetic data sets based on data from the Borden Aquifer in Ontario, Canada. In general, the results show that uncertainty in the length of the time-dependent capture zone at a given reliability level is dependent on the uncertainty in the magnitude of the mean regional flow, which is equal to the transmissivity multiplied by the hydraulic head gradient; uncertainty in the maximum width of the capture zone is dependent primarily on the uncertainty in the mean direction of the regional flow.

Equipment Design↗