Application of breast cancer risk prediction models in clinical practice.

Breast cancer risk assessment provides an estimation of disease risk that can be used to guide management for women at all levels of risk. In addition, the likelihood that breast cancer risk is due to specific genetic susceptibility (such as BRCA1 or BRCA2 mutations) can be determined. Recent developments have reinforced the clinical importance of breast cancer risk assessment. Tamoxifen chemoprevention as well as prevention studies such as the Study of Tamoxifen and Raloxifene are available to women at increased risk of developing breast cancer. In addition, specific management strategies are now defined for BRCA1 and BRCA2 mutation carriers. Risk may be assessed as the likelihood of developing breast cancer (using risk assessment models) or as the likelihood of detecting a BRCA1 or BRCA2 mutation (using prior probability models). Each of the models has advantages and disadvantages, and all need to be interpreted in context. We review available risk assessment tools and discuss their application. As illustrated by clinical examples, optimal counseling may require the use of several models, as well as clinical judgment, to provide the most accurate and useful information to women and their families.     

Real American children: The challenge for after-school programs

Several million American children are currently unsupervised during the hours between school and parents' leaving for and/or return from the workplace. Many families would prefer other arrangements, but cost or availability factors present insurmountable barriers. Although growing, the public response continues to fall far short of the need; in the meantime, private entrepreneurs are moving to fill the gaps in available services. But if these programs for school-aged children are to serve functions other than the aggrandizement of their sponsors, they must be focused on the real needs that exist among real American children. Among the real children in need of care are those who are impoverished, unsupervised, unfit physically, unprepared for the demands of school and workplace, hurried into premature adulthood, and/or disconnected from the social worlds around them. Professional child and youth care workers with experience in day care and residential settings have the preparation needed to take leadership roles in creating developmentally appropriate, effective programs to meet the emerging demands for school-age child care and to weave them into a fabric of youth-centered community services.     

The everyday realities of the multi-dimensional role of the high school community nurse.

The traditional role of the high school based community community health nurse has changed considerably over recent decades. This article describes a qualitative study, in which nine community health nurses from eight different high schools completed a diary of the interventions and events during the course of two working days in order to identify the dimensions of their role. A short demographic questionnaire was also completed by the nurses and included two open-ended questions concerning their main professional issues and concerns. The researchers sought verification of the interpretation of the data through a focus group interview with the high school nurses. Data analysis indicated that the role of the high school community health nurses (CHN) consisted of seven categories. These were provider of clinical care, counsellor/ mediator, advocacy and support, liaison/referral, health promotion/education and resource agent, and professional management and research role. The findings highlight the complex and demanding aspects of the role of the high school nurse and articulate the importance of describing the contribution of such practitioners in to the promotion of health among adolescents.     

Tc-99m HMPAO SPECT imaging of the central nervous system in tuberous sclerosis

Tc-99m HMPAO was used to evaluate cerebral perfusion in a patient with tuberous sclerosis. The SPECT images demonstrated reduced HMPAO uptake in regions corresponding with MRI-confirmed locations of cortical tubers. These results indicate that the lesions are characterized by vascular perfusion deficits and support the hypothesis that cortical tubers result from developmental abnormalities of the embryonic central nervous system.     

Relationship of MAO-A promoter (u-VNTR) and COMT (V158M) gene polymorphisms to CSF monoamine metabolites levels in a psychiatric sample of caucasians: A preliminary report.

Monoamine oxidase A gene promoter (MAOA-uVNTR) and catechol-O-methyltransferase V158M (COMT-V158M) gene functional polymorphisms are reported to be associated with impulsive-aggression, but a biological intermediate effect remains to be determined. This study assessed the association of these polymorphisms with cerebrospinal fluid (CSF) monoamine metabolites as endophenotypes. Ninety-eight Caucasian psychiatric subjects were assessed for Axis I and II diagnosis. Subjects were genotyped for the functional polymorphisms, MAOA-uVNTR and COMT-V158M. CSF was obtained by lumbar puncture. Relationships of the two polymorphism to monoamine metabolites: HVA, 5-HIAA, and MHPG were examined. The higher-expressing MAOA-uVNTR genotype was associated with higher CSF-HVA levels in males only (n = 46) (195.80 pmol/ml, SD = 61.64 vs. 161.13, SD = 50.23, respectively; P = 0.042). No association was found with diagnosis. COMT-V158M had no association with CSF monoamine metabolites. The association of MAOA-uVNTR with dopaminergic activity in males is a preliminary finding that needs to be replicated in a larger sample of Caucasian males and relationships sought with clinical phenotypes. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299:1/suppmat/index.html.     

Nonemergent ED patients referred to community resources after medical screening examination: characteristics, medical condition after 72 hours, and use of follow-up services.

INTRODUCTION: Limited access to medical care has resulted in large numbers of patients seeking primary care for non-emergent emergency conditions in emergency departments. This influx of patients is contributing to overcrowding and delays in care for patients with emergencies. In response, a system was implemented in which persons with non-emergent medical conditions, following a medical screening examination, did not receive further ED assessment or treatment and instead were referred to community resources. The purpose of this study was to describe the characteristics of individuals who were referred to community-based services, their condition after 72 hours, and their use of follow-up health care services. METHODS: All referred cases (n=225) were reviewed for chief complaint and demographics. Phone contact was attempted after 72 hours to determine the person's condition and if community resources were utilized. RESULTS: Of the 225 cases, 52% were female, with a mean age of 33 years. Their most common chief complaints were extremity problems (16%), toothache (9%), and medication refill (8%). Follow-up phone contact was successful with 82 people (37%) an average of 14 days after their ED visit. The majority (55%) reported their condition had improved; 39%were unchanged, and 6% were worse. Thirty-one people(40%) accessed community resources and 8 (26%) returned to another emergency department. No clinically significant associations were found between patient demographics and use of community resources. DISCUSSION: Most people who were successfully contacted for follow-up and who had come to the emergency department with non-emergent chief complaints did not access community resources and their condition frequently improved. Additional studies, with improved follow-up, are needed before suggesting that referring individuals to community resources is an acceptable practice.     

Relocation mortality in dementia: The effects of a new hospital

Relocation mortality has been cited as an important factor when considering the placement of elderly patients. This study describes the fate of dementia patients relocated to facilitate the move to a new hospital. Some wards were moved as intact units—that is, the patients were kept together and there was little change in the nursing or medical staff. Two other wards were closed, and these patients were dispersed to several existing and new wards and experienced changes of nursing and medical staff. All patients underwent prerelocation and postrelocation orientation programmes. The mortality figures for the total patient group before and after the relocation do not show any statistically significant increase in mortality postrelocation. However, for wards that were closed and where the patients suffered maximum disruption to patient group and nursing staff, there was a significant increase in mortality rates.     

Benign intracranial hypertension and recombinant growth hormone therapy in Australia and New Zealand

Benign intracranial hypertension (BIH) is reported in three children from Australia and one from New Zealand, who were being treated with recombinant human growth hormone (rhGH). Three males and one female, aged between 10.5 and 14.2 y, developed intracranial hypertension within 2 weeks to 3 months of starting treatment. A national database, OZGROW, has been prospectively collecting data on all 3332 children treated with rhGH in Australia and New Zealand from January 1986 to 1996. The incidence of BIH in children treated with growth hormone (GH) is small, 1.2 per 1000 cases overall, but appears to be greater with biochemical GHD (<10IUml ^-1), i.e. 6.5/1000 (3 in 465 cases), relative risk 18.4, 95% confidence interval 1.9-176.1, than in all other children on the database. The incidence in patients with Turner's syndrome was 2.3/1000 (1 in 428 cases). No cases in patients with partial GHD (10–20 IUml ^-1) or chronic renal failure were identified. Possible causative mechanisms are discussed. The authors'practice is now to start GH replacement at less than the usual recommended dose of 14IUm-² week^-1 in those children considered to be at high risk of developing BIH. Ophthalmological evaluation is recommended for children before and during the first few months following commencement of rhGH therapy and is mandatory in the event of peripheral or facial oedema, persistent headaches, vomiting or visual symptoms. The absence of papilledema does not exclude the diagnosis.