Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques.

We report genetic characterization of isochromosome 18p using a combination of cytogenetic and molecular genetic methods, including multiplex fluorescent PCR. The patient was referred for chorionic villus sampling (CVS) due to advanced maternal age and maternal anxiety. The placental karyotype was 47,XX,+mar, with the marker having the appearance of a small supernumerary isochromosome. Because differentiating between isochromosomes and other structural rearrangements is normally very difficult, a variety of genetic tests including fluorescence in situ hybridization (FISH), PCR, and multiplex fluorescent PCR were undertaken to determine chromosomal origin and copy number and, thus, allow accurate diagnosis of the corresponding syndrome. FISH determined that the marker chromosome contained chromosome 18 material. PCR of a variety of short tandem repeats (STRs) confirmed that there was at least one extra copy of the maternal 18p material. However, neither FISH nor PCR could accurately determine copy number. Multiplex fluorescent PCR (MF-PCR) of STRs simultaneously determined that: (1) the marker included 18p material; (2) the marker was maternal in origin; (3) allele copy number indicated tetrasomy; and (4) contamination of the sample could be ruled out. Results were also rapid with accurate diagnosis of the syndrome tetrasomy 18p possible within 5 hours.

The role of state public health agencies in genetics and disease prevention: results of a national survey.

OBJECTIVES: The onset and severity of the clinical expression of most diseases that are of public health importance are influenced by genetic predisposition. The ability to assess human genetic predisposition for many diseases is increasing rapidly. Therefore, state public health agencies should be incorporating new developments in genetics and disease prevention into their core functions of assessment, policy development, and assurance. The authors assessed the status of this process. METHODS: The Council of State and Territorial Epidemiologists (CSTE) surveyed states about projects and concerns related to genetics and public health activities. Respondents were the Health Officer, the Maternal and Child Health/Genetics Program Director, the Chronic Disease Program Director, and the Laboratory Director. Where applicable, responses were categorized into assessment, policy development, and assurance functions. RESULTS: Thirty-eight (76%) state health departments responded. Ongoing genetics activities were assurance (82%), assessment (17%), and policy development (2%). In contrast, Health Officers responded that future genetics activities would be distributed differently: assurance, 41%; assessment, 36%; and policy development, 23%. Future assurance activities would be largely educational. Topics of interest and recently initiated activities in genetics were primarily assessment functions. Funding was the greatest concern, followed by lack of proven disease prevention measures and outcomes data. CONCLUSIONS: State health departments recognize a need to realign their activities to meet future developments in genetics. Lack of adequate resources, proven disease prevention measures, and outcomes data are potential barriers. Public health agencies need to develop a strategic plan to meet the opportunities associated with the development and implementation of genetic tests and procedures.

The role of states in ensuring essential public health services: development of state-level performance measures.

The Association of State and Territorial Health Officials (ASTHO) has worked with other public health partners across the country to develop National Public Health Performance Standards, nationally recognized measures by which state public health systems can compare themselves with similar systems across the country. The lead federal agency is the Centers for Disease Control and Prevention (CDC), and other partners include the Public Health Foundation, the American Public Health Association, the National Association of City and County Health Officials, and the National Association of Local Boards of Health. Both challenges and opportunities emerged during the development of the state public health system standards.

An ounce of prevention is worth a pound of cure-shoring up the public health infrastructure to respond to bioterrorist attacks.

US public health departments must be prepared for the possibility of a biological terrorist event. Readiness means not only making sure our national security systems are adequate and vigilant, but that public health has the ability and resources to rapidly identify, investigate, and control the consequences of a terrorist event. Preparing for a bioterrorist attack will also improve public health's ability to address infectious disease outbreaks, food safety concerns, and environmental hazards.

A multifaceted approach to changing handwashing behavior.

BACKGROUND: Few interventions to influence handwashing have had measurable effects. This prospective quasi-experimental study was designed to address predisposing, enabling, and reinforcing factors to improve frequency of handwashing. METHODS: Over a 12-month time period, a multifaceted intervention including focus group sessions, installation of automated sinks, and feedback to staff on handwashing frequency was implemented in one intensive care unit; a second unit served as a control. Dependent variables observed were handwashing frequency and self-reported practices and opinions about handwashing. Study phases included baseline, three phases of about 2 months each in duration in which sink automation was incrementally increased, and follow-up 2 months after intervention. RESULTS: During 301 hours of observation, 2624 handwashings were recorded. Proportion of times hands were washed varied by indication, ranging from 38% before invasive procedures to 86% for dirty-to-clean procedures (p < 0.00001). Although there were some significant differences between experimental and control units in handwashing during the study, these differences had returned to baseline by the 2-month follow-up. There were no significant differences in self-reported practices and opinions from before to after intervention nor between units. CONCLUSIONS: Intensive intervention, including feedback, education, and increased sink automation, had minimal long-term effect on handwashing frequency.

Hand washing: a ritual revisited.

This article summarizes a critical analysis of 18 studies that examined the link between hand washing and infection. Although several factors made it difficult to evaluate the effect of hand washing, the authors conclude that (1) hand washing can add incremental value to infection-control strategies in acute care settings, (2) patient hand hygiene may influence infection rates, and (3) the effect of "ideal" hand washing on nosocomial infection rates is unlikely to be quantifiable.