Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Background: Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.

Methods: We analyzed the genomes of 2312 children known to carry a copy-number variant associated with intellectual disability and congenital abnormalities, using array comparative genomic hybridization.

Pilot evaluation of citalopram for the relief of hot flashes.

Symptoms associated with premature menopause are a significant problem for women with a history of breast cancer who cannot take hormone replacement therapy. Thus, effective nonhormonal alternatives are needed to manage hot flashes, the most prevalent symptom of menopause. Previous studies have defined that venlafaxine, an anti-depressant, is an effective treatment for such hot flashes.

Ethical use of tissue samples in genetic research.

Many centrally based cancer protocols have begun to address the ethical issues concerning tissue banking for genetic research. A multidisciplinary subcommittee of the Madigan Army Medical Center Institutional Review Board was established to determine the scope of the problem and offer a concise, user-friendly policy with guidelines on how to control and monitor the use of stored tissue for future genetic and molecular research. Our institution participates in 69 Southern Oncology Group or National Surgical Adjuvant Breast and Bowel Project protocols and 47 Children's Oncology Group protocols.

Relationship between the extent of histologic villous mineralization and stillbirth in aneuploid and euploid fetuses.

Objective: To describe the relationship between the degree of placental histologic villous mineralization (VM) and stillbirth in aneuploid and euploid fetuses.

Methods: The extent of VM for aneuploid and gestational age-matched euploid placentas was graded semiquantitatively on a 0 to 3 scale based on the number of terminal or stem villi containing mineralizations in forty x10 fields of view. The extent of VM was analyzed in relation to fetal status at delivery (liveborn or stillborn) for both aneuploid and euploid fetuses.