Jill M. Rabin

Incidence of an estrogen receptor polymorphism in breast cancer patients

SummaryWe previously identified a polymorphism in the human estrogen receptor (ER) gene, within the coding region for the proteins amino terminal B-domain. In estrogen receptor-positive (ER+) breast tumors, the variant allele was preferentially associated with lower levels of ER, and was clinically correlated with frequent spontaneous abortions. DNA sequencing revealed a point mutation that changes codon 86 from Ala to Val and a silent mutation in codon 87. Because we initially detected the variant allele by analyzing RNA, only those tissues in which the ER gene is actively expressed were suitable for genotype analysis. We now describe an assay that uses genomic DNA as the substrate for determining the ER B genotype; DNA containing the polymorphic region of the ER gene is amplified by the polymerase chain reaction, then the amplified DNA is hybridized with radiolabeled oligonucleotide probes complementary to the wild type and variant ER alleles. This method allowed us to determine the ER B genotype of women with ER+ and ER− tumors, starting with minute amounts of DNA from frozen or paraffin embedded tissues. ER B genotyping was also performed on women without breast cancer using DNA extracted from blood cells. The combined results from analyses of RNA and DNA from 300 breast cancer patients showed that 12% were heterozygotes. In the ER+ group (n=183), 11.5% carried the variant gene compared to 12.8% in the ER-negative group (n=117) (χ2=0.11; df=1; p>0.25). No link to tumor histology could be established. Preliminary data on DNA from blood of healthy women over the age of 50 (n=64) yielded a slightly lower ER B-variant frequency (9.4%); this frequency was not significantly different than that in the breast cancer groups. Thus, while the variant ER allele is associated with low ER levels in ER positive breast tumors, its frequency is not different in the ER+ and ER− tumor groups and may be unrelated to breast cancer development.

The Long Term Benefits of a Comprehensive Teenage Pregnancy Program

A comprehensive program was founded in 1982 to provide adolescents with prenatal and family planning care. The programs impact through its first five years of operation on medical aspects of pregnancy course and fetal outcome will be the subject of a separate report. This study examines subsequent maternal and infant health of the patients attending the program compared to a control group. Four hundred ninety-eight adolescents and their newborns attending the programs mother-baby family planning clinic from 1982 to 1989 (subject group) were compared to ninety-one adolescents and their newborns receiving postpartum family planning and pediatrics clinics from 1980 through 1989 (control group). Seventy-five percent of the subject group regularly attended mother-baby clinic, compared to 18% of the control group attending family planning and pediatric clinics (P≤.0001). The subject group experienced less maternal and infant morbidity, greater school attendance, graduation, employment, and contraceptive use than the control group (P<.0001). Many parameters improved with each program year indicating continued wide acceptance of our program by area adolescents.

Type IX Ehlers-Danlos syndrome : bladder diverticula with transitional cell carcinoma

Patients with type IX Ehlers-Danlos syndrome have a tendency for development of diverticulae of the urinary bladder, and these often recur after surgical excision. We report on a patient with this syndrome in whom an extensively infiltrating transitional cell carcinoma developed in a diverticulum. To our knowledge, this is the first reported case of malignancy developing in a patient with type IX Ehlers-Danlos syndrome. The highly aggressive nature of the neoplasm is discussed in relation to the dampened desmoplastic response to the tumor, observed in this patient.

Clinical Use of the FemAssist Device in Female Urinary Incontinence

OBJECTIVE:We sought to determine the safety and effectiveness of a new, simple noninvasive device, “FemAssist” for women suffering from urinary incontinence.METHODS:The “FemAssist” is a dome-shaped medical grade silicon device intended to be worn over the external urethral meatus and held in place by suction and an adhesive gel Thirty eight women with varying degrees of genuine stress urinary incontinence (GSUI) or mixed incontinence on multichannel urodynamic testing were fitted with one of two sizes of “FemAssist” with regard to their anatomy and dexterity.RESULTS:Thus far, of the 38 women who have completed the study, there have been no reported significant increases in bacteriuria or urinary tract infection rates. Over half of the women reported an improvement in the quality of life including comfort, convenience, and overall satisfaction. The device was worn for a total of 886 days by the group; 82% of these were dry days.CONCLUSION:Our preliminary study suggests that the “FemAssist” device is safe and effective for some women with urinary incontinence.

Acute Myocardial Infarction in the First Trimester of Pregnancy in a Great Grand Multiparous Woman with Poorly Controlled Chronic Hypertension.

Introduction Acute myocardial infarction (MI) in pregnancy is a rare event, usually occurring late in gestation, either in the third trimester or in the puerperium. It is associated with significant maternal and fetal morbidity and mortality. Although diagnosis and management of MI in pregnancy has been discussed in the literature, management of pregnancy following an early antepartum MI, which may have more consequences for the fetus, has not received as much attention. Case A 38-year-old great grand multiparous woman presented to the emergency department complaining of acute onset chest pain. The patient had a history of chronic hypertension and was an active smoker. She was incidentally found to be 5 weeks pregnant. She was diagnosed with an acute MI, which was treated by primary percutaneous coronary intervention. Her subsequent pregnancy course was complicated by poorly controlled chronic hypertension, but she ultimately delivered a healthy newborn at 36 weeks of gestational age. Conclusion Good pregnancy outcomes are possible after early antepartum MI, especially with early diagnosis, appropriate treatment, and a multidisciplinary team approach to prenatal care. Delivery should occur in a tertiary referral center with experience managing high-risk obstetric patients with cardiac disease.