Polymorphisms in the human organic cation transporter and the multidrug resistance gene: correlation with imatinib levels and clinical course in patients with chronic myeloid leukemia.

The optimal tyrosine kinase inhibitor for any individual patient with chronic myeloid leukemia (CML) is not predictable. Pharmacogenetic parameters and trough levels of imatinib (IM) have each been independently correlated with response. We therefore studied the human organic cation transporter (hOCT1) and multidrug resistance (MDR1) single nucleotide polymorphisms (SNPs) and correlated these with IM levels and major molecular response (MMR) (3-log reduction) in 84 patients with CML, the first such study performed in Caucasians.

Clinical implications of acute myeloid leukemia presenting as myeloid sarcoma.

In this retrospective study, we aim to analyze the characteristics, treatments, and overall survival of all patients presenting with isolated myeloid sarcoma (MS) or MS with concomitant acute myeloid leukemia (AML) compared with all patients with AML, treated during the same period. We identified patients with AML with or without MS at diagnosis, presenting to our medical center between the years 1990 and 2005. There was no statistically significant difference between the groups regarding gender, age, cytogenetic risk groups, rate of complete remission, number of cycles of chemotherapy needed to achieve complete remission, and rate of first relapse.

11β-Hydroxysteroid dehydrogenase type 1 activity in short small-for-GA children and in response to GH therapy.

Small for GA (SGA) children are at risk for developing the metabolic syndrome. Those who do not catch up, and remain short (SSGA), may benefit from GH therapy. 11β Hydroxysteroid dehydrogenase type 1 (11β-HSD-1) is expressed in visceral fat and is implicated in metabolic morbidity.

Androgen replacement therapy in Turner syndrome: a pilot study.

Context: Women with Turner syndrome (TS) have reduced levels of androgens due to ovarian failure.

Hypotheses: Morbidity associated with TS, such as bone fragility, metabolic changes, obesity, neurocognitive profile, and sexual problems may partly relate to androgen insufficiency and improve on androgen replacement therapy (ART).

Objectives: The objective of the study was to determine the effect of androgens on morbidity in TS.

Parturition itself is the basis for fetal adrenal involution.

Context: Newborn infants show a postnatal decline in androgen levels as the fetal adrenal glands involute.

Hypothesis: Placental factors up-regulate dehydroepiandrosterone sulfate (DHEA-S) generation. Hence, regardless of age, parturition will result in fetal adrenal involution and decline in DHEA-S levels.

Physiological and catecholamine response to sympathetic stimulation in turner syndrome.

Objective: Women with Turner syndrome have increased heart rate and high blood pressure (BP), and have been described as having high tolerance for emotional stress. We hypothesized that women with Turner syndrome have reduced catecholaminergic and physiological response to sympathetic stimulation, and that changes in BP and heart rate are related to their catecholamine response to sympathetic stimulation.

Design And Patients: Ten young women with Turner syndrome, age 17-34 years were the subjects of this study.