A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.

Purpose: To develop a model of offering population carrier screening for fragile X syndrome to nonpregnant women in primary care, using a program evaluation framework.

Methods: A three-phase approach included: (I) needs assessment exploring staff and client attitudes, and informing development of educational materials, questionnaires and protocols; (II) offering screening to women, with questionnaires at baseline (Q1) and another (Q2) 1-month later; (III) genetic counseling for test-positive women and interviews with a subgroup of participants.

Results: Of 338 volunteering for Phase II, 94% completed Q1, 59% completed Q2, and 20% (N = 65) chose testing revealing one premutation carrier and three gray zone results; 31 women were interviewed.

Assessment of uncertainties in a long range atmospheric transport model: Methodology, application and implications in a UK context.

Acid deposition models are inherently simplified representations of real world behaviour and their performance is best evaluated by comparison with observations. National and international acid rain policy assessments handle observed and modelled deposition fields in different ways. Here, both the observed and modelled deposition fields are seen as uncertain and the Generalised Likelihood Uncertainty Estimation (GLUE) framework is used to choose acceptable sets of model input parameters that minimise the differences between them.

Keys to successful self-management of medications.

Medication use by community-dwelling elderly accounts for a significant portion of all U.S. drug use.

In primed allo-tolerance, TIM-3-Ig rapidly suppresses TGFbeta, but has no immediate effect on Foxp3.

T-cell immunoglobulin mucin-3 (TIM-3) is only expressed by differentiated TH1 cells following their proliferative response to antigen, functioning to terminate TH1-mediated immunity upon binding to the TIM-3 ligand, galectin-9. This critical regulatory process involves Treg cells via their stable expression of galectin-9. Soluble TIM-3-Ig blocks galectin-9 and prevents induction of peripheral tolerance.

Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.

This study used in-depth interviews to explore the experiences of parents who were re-contacted with new genetic results many years after the death of a child with a mitochondrial disorder. At the time of their child's illness, parents had consented to a tissue sample being taken to help with diagnosis of a suspected mitochondrial disorder, and subsequently further DNA testing identified the genetic cause. Parents did not express negative feelings about being re-contacted with new information, and hoped that continuing research might help other families.

The importance of program evaluation: how can it be applied to diverse genetics education settings?

The role of a genetic counselor often entails providing education to patient, community and/or health professional groups. While counseling supervision assists genetic counselors to be reflective about their clinical work and to enhance clinical skills, evaluation is a rather analogous process in the provision of education. Program evaluation of education activities can be applied to provide information about the needs of the target group (needs assessment), the delivery of the program (process evaluation) as well as determining the extent to which the education activity has met its intended aims (summative evaluation).

Use of a decision aid for prenatal testing of fetal abnormalities to improve women's informed decision making: a cluster randomised controlled trial [ISRCTN22532458].

Objective: To evaluate the effectiveness of a decision aid for prenatal testing of fetal abnormalities compared with a pamphlet in supporting women's decision making.

Design: A cluster randomised controlled trial.

Setting: Primary health care.

'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening.

Carrier screening for cystic fibrosis has been recommended for pregnant women and their partners, individuals and couples prior to conception, and for people with a family history. Many pilot programmes offering cystic fibrosis carrier screening, most commonly in the prenatal setting, have shown that uptake and acceptability are high. This article explores perspectives of the Victorian community regarding carrier screening for cystic fibrosis prior to offering screening.

Genetics and blood--haemoglobinopathies and clotting disorders.

Background: Genetic disorders of the blood are common inherited conditions of global impact. The haemoglobinopathies and clotting disorders represent two areas of significance to Australian primary care practitioners.

Objective: This article describes the haemoglobinopathies and thrombophilias and their relevance to primary care practitioners.

Genetics and preventive health care.

Background: Advances in our understanding of the genetics of common chronic disease is beginning to impact on clinical practice and preventive health care.

Objective: This article discusses the potential for genetic medicine to inform disease prevention strategies. It describes two examples already affecting clinical general practice: familial hypercholesterolaemia and hereditary haemochromatosis.

Family genetics.

Background: A comprehensive family history, regularly updated and including the patient's ancestry and cultural background can aid in diagnosis, risk prediction, referral and genetic testing.

Objective: This article discusses the professional and support services available to families following the identification of a genetic condition or mutated gene, conferring individual or reproductive risk.

Discussion: Genetic testing for a range of conditions is available for diagnostic, carrier, predictive and presymptomatic purposes.

Population genetic screening.

Background: Genetic screening programs in Australia are primarily carried out during pregnancy for maternal thalassaemia carrier status, chromosomal conditions and neural tube defects in the fetus, and for a number of conditions in the newborn.

Objective: This article describes these programs and the general practitioner's role, particularly around offering prenatal screening that includes nongenetic aspects (eg. smoking, alcohol), to enable good practice.

Regulatory transplantation tolerance and "stemness": evidence that Foxp3 may play a regulatory role in SOCS-3 gene transcription.

Immune self-tolerance is controlled by a subset of T lymphocytes that are regulatory (Treg) and epigenetically programmed to suppress autoreactive immune effector cells in vivo. Treg require expression of Foxp3, a transcription factor that not only represses the interleukin-2 gene promoter, but also sequesters key mediators of T-cell signal transduction by complexing with cytoplasmic NFAT and NFkappaB. We have discovered that expression of Foxp3 is linked to two stem cell-related factors, namely leukemia inhibitory factor (LIF) and axotrophin.

A model for the development of genetics education programs for health professionals.

Purpose: The need for education programs to facilitate the integration of genetics into health practice is well recognized. The inclusion of education as an aspect of genetics policy and the establishment of national bodies for genetics education extend program development beyond ad hoc programs conducted by individual practitioners. A framework for the development of an effective program is required that has a strong theoretic basis and incorporates rigorous evaluation.

PHARMAC funding of 9-week concurrent trastuzumab (Herceptin) for HER2-positive early breast cancer.

A 9-week regimen of trastuzumab (Herceptin) given concurrently with a taxane will be funded for HER2-positive early breast cancer patients in New Zealand. The use of trastuzumab in this population has been investigated in sequential (after chemotherapy) or concurrent (with taxane chemotherapy) settings. Five RCTs have been reported--HERA, NSABP B31, NCCTG N9831, BCIRG 006, and FinHer.

Promoting collaboration in nursing education: the development of a regional simulation laboratory.

This article describes a collaboratively developed plan for a regional patient simulation laboratory for nursing education. The Western North Carolina Regional Simulation Laboratory will be located at the Enka Campus of the Asheville-Buncombe Technical Community College at the Department of Nursing of Western Carolina University (Candler, NC). A proactive collaborative consortium has been established to help meet the demand for nursing education in the 13 most rural mountain counties of western North Carolina.

The influence of positive and negative facial expressions on face familiarity.

Recent studies have shown that smiling faces are judged as more familiar than those showing a neutral expression (Baudouin, Gilibert, Sansone, & Tiberghien, 2000). Here we compare judged familiarity of unknown and famous faces when displaying a positive, neutral, or negative expression. Our results confirm a smiling familiarity bias, with positive-expression faces judged as being more familiar.

Evidence for functional inter-relationships between FOXP3, leukaemia inhibitory factor, and axotrophin/MARCH-7 in transplantation tolerance.

In an ex vivo mouse model, regulatory transplantation tolerance is not only linked to Foxp3, but also to release of leukaemia inhibitory factor (LIF) and to expression of axotrophin (also known as MARCH-7), a putative ubiquitin E3 ligase associated with feedback control of T cell activation and of T cell-derived LIF. Given this coordinate correlation with tolerance, we now ask if Foxp3 expression is influenced by LIF or by axotrophin. In spleen cells from allo-rejected mice we found that exogenous LIF reduced interferon gamma release in response to donor antigen by 50%, but LIF had no direct effect on levels of Foxp3 protein in allo-primed cells that were either tolerant, or aggressive, for donor antigen.