Women's perceptions of early detection in breast cancer: how are we doing?

Breast cancer is a significant risk to many women in the United States. It is also a major cause of death among American women. The National Cancer Institute's Year 2000 breast screening goal is to increase the percentage of women aged 50 to 70 years who have physical examination and mammography to 80%. However, many barriers to screening remain. Providing correct information and education regarding risk and mammography may help to overcome these barriers and achieve this goal.

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

A child affected by the type VII form of Ehlers-Danlos syndrome (EDS VII) was shown to have a heterozygous structural defect in the amino-terminus of pro-alpha 1(I) collagen. As a result, type I procollagen trimers containing defective subunits are not converted to mature collagen molecules. To identify the cause of the protein abnormality, specifically primed cDNAs and genomic DNA were PCR amplified and sequenced. This analysis disclosed that the protein structural defect is caused by a single base substitution (A for G) at position -1 of the splice donor site of intron 6 of the pro-alpha 1(I) collagen gene (COL1A1). The affected allele produces (a) transcripts lacking exon 6 sequences and (b), in lesser amount, normally spliced transcripts. Furthermore, the rate of exon 6 skipping is temperature dependent, for it appears to decrease substantially when the patient's fibroblasts are incubated at 31 degrees C. These findings are similar to those we previously reported for other unrelated EDS VII cases and, therefore, reemphasize the molecular homogeneity of this rare connective tissue disorder.

Selecting a systematic approach for educating hospitalized cancer patients.

Establishing cancer patient education programs for hospitalized cancer patients may follow a six-stage process that includes planning and strategy selection, selecting channels and materials, developing materials and pretesting, implementation, assessing effectiveness, and obtaining feedback to refine the program. The extent to which each of the stages is followed depends upon which stages are appropriate for the program and the consensus of hospital management.

S phase index and ploidy prognostic markers in node negative breast cancer: information for nurses.

The National Cancer Institute (NCI) issued a Clinical Alert on node negative breast cancer in May 1988. Based on findings of clinical studies, the Alert advised that adjuvant hormonal or cytotoxic chemotherapy could have a meaningful impact on the natural history of patients with node negative breast cancer. Prior to the Alert, the majority of women diagnosed with node negative breast cancer did not receive adjuvant treatment. To determine which patients with node negative breast cancer can potentially benefit from adjuvant treatment, a number of biological variables need to be considered: menopausal status, tumor size, histopathology, nuclear grade, and steroid hormone receptor status. Recently two new prognostic indicators--S phase index (SPI) and ploidy--have been incorporated into the clinical setting. This article explains these indicators and provides patient education information.

Nonimmune hydrops fetalis may be associated with an elevated delta OD450 in the amniotic fluid.

Nonimmune hydrops fetalis may be associated with an elevated amniotic fluid delta OD450. Cases of I-cell disease (mucolipidosis II), lethal multiple pterygium syndrome, and alpha-thalassemia are presented, each associated with nonimmune hydrops fetalis and an elevated delta OD450. An elevated delta OD450 does not always indicate isoimmunization, and may be due to increased red blood cell turnover for a variety of reasons associated with nonimmune hydrops fetalis.

A commentary on cancer patient education.

Cancer patient education shares many of the challenges associated with patient education for any chronic disease. Some issues, however, gain special significance when the diagnosis is cancer. This article provides concise information about the educational needs of cancer patients, factors affecting patient learning, and assessment of patient needs.

Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion.

One hundred three women with prior histories of recurrent spontaneous abortion and 81 of their mates were karyotyped with Q-banding during 1976-1980. Recurrent abortion was defined as two or more spontaneous pregnancy losses; no couple with a previous malformed fetus or child was included. These cases were reviewed in order to examine the possible contributions of minor polymorphic chromosomal variants and major chromosomal abnormalities to recurrent spontaneous pregnancy loss. Balanced translocations were detected in four women and two men in the study; mosaic X aneuploidy was noted in one woman. Quantitative (1 qh, 9qh, 16qh, Yqh) and qualitative (3c, 4c, 13p, 13s, 14p, 14s, 15p, 15s, 21p, 21s, 22p, 22s) heterochromatic polymorphisms were blindly assessed and compared with a control group. Cases and controls did not differ in the frequency of any qualitative polymorphisms or in the length of any quantitative polymorphism. Thus, while major parental cytogenetic aberrations are significantly associated with fetal wastage, these data suggest that minor polymorphic chromosomal variants do not play an important role in the etiology of recurrent spontaneous abortion.

Services available to persons with cancer. National and regional organizations.

To help the physician help cancer patients with psychological, social, and economic problems related to their having cancer, a chart indicates the major national and regional organizations with services targeted for persons with cancer, their families, and friends. Regional toll-free telephone numbers of the Cancer Information Service provide access to information about cancer-related resources.

Psychological sequelae of elective abortion.

A mild, short, depressive and guilt ridden period following abortion is quite common, but a severe psychological reaction is rare. The indication for the abortion and the preabortal psychological state of the patient are the two most important factors. Almost all reported instances of postabortion psychoses have occurred in patients who had severe preabortal psychiatric problems. Women undergoing abortion for socioeconomic or psychosocial indications appear to be at minimal risk for long-term negative psychological sequelae. In contrast, women in whom abortion is carried out because of exposure to rubella and the risk of fetal malformation, maternal organic disease or the prenatal diagnosis of a genetically defective fetus are at greater risk and may need supportive psychotherapy.

The psychological sequelae of abortion performed for a genetic indication.

Psychometric testing and psychiatric interviews were conducted on 13 families in which the women had undergone amniocentesis for the prenatal detection of a genetic defect in the fetus and, upon receiving positive results, elected to have a therapeutic abortion. The indication for amniocentesis was maternal age in two families, a previous child with Down's syndrome in one family, a previous child with a recessively inherited inborn error of metabolism in four families, and the mother being a carrier for an X-linked disease in six families. The incidence of depression following selective abortion may be as high as 92 per cent among the women and as high as 82 per cent among the men studied, and was greater than that usually associated with elective abortion for psychosocial indications or with delivery of a stillborn. Four families experienced separations during the pregnancy-abortion period. Despite the emotional trauma of the procedure, most of the families studied would repeat their course of action and consider selective abortion preferable to the alternative birth of a defective child. Several modifications in the amniocentesis and selective abortion procedure which might diminish the concomitant emotional trauma are suggested.