Discussion: 'Add-back regimens in patients using a GnRH agonist for premenstrual dysphoric disorder' by Segebladh et al.

In the roundtable that follows, clinicians discuss a study published in this issue of the Journal in light of its methodology, relevance to practice, and implications for future research. Article discussed: Segebladh B, Borgström A, Nyberg S, et al. Evaluation of different add-back estradiol and progesterone treatments to gonadotropin-releasing hormone agonist treatment in patients with premenstrual dysphoric disorder.

Etiology of recurrent pregnancy loss in women over the age of 35 years.

Objective: To determine the rate of embryonic chromosomal abnormalities, thrombophilias, and uterine anomalies in women over the age of 35 years with recurrent pregnancy loss (RPL).

Design: Retrospective cohort study.

Setting: Academic reproductive endocrinology and infertility clinic.

Histone deacetylase 1, 2, 6 and acetylated histone H4 in B- and T-cell lymphomas.

Aims: Histone deacetylase (HDAC) inhibitors are novel therapeutics in the treatment of peripheral T-cell lymphoma, unspecified (PTCL) and diffuse large B-cell lymphoma (DLBCL), where, for unknown reasons, T-cell malignancies appear to be more sensitive than B-cell malignancies. The aim was to determine HDAC expression in DLBCL and PTCL which has not previously been investigated.

Methods And Results: The expression of HDAC1, HDAC2, HDAC6 and acetylated histone H4 was examined immunohistochemically in 31 DLBCL and 45 PTCL.

A functional analysis of the pyrimidine catabolic pathway in Arabidopsis.

* Reductive catabolism of pyrimidine nucleotides occurs via a three-step pathway in which uracil is degraded to beta-alanine, CO(2) and NH(3) through sequential activities of dihydropyrimidine dehydrogenase (EC 1.3.1.

Crying wolf: Consumers may be more willing to share medication information than policymakers think.

Current health IT policy directions assume lay people want to make explicit choices about who can access elements of their health information. To test this assumption, we presented lay people (N=31) with a decision scenario that required them to choose whether to share their medication information with three different types of physicians. Participants generally chose to share all of their medication information, citing anticipated clinical care benefits as the main reason for their choices.

Impact of genotyping errors on the type I error rate and the power of haplotype-based association methods.

Background: We investigated the influence of genotyping errors on the type I error rate and empirical power of two haplotype based association methods applied to candidate regions. We compared the performance of the Mantel Statistic Using Haplotype Sharing and the haplotype frequency based score test with that of the Armitage trend test.Our study is based on 1000 replication of simulated case-control data settings with 500 cases and 500 controls, respectively.

Scenario-based user testing to guide consumer health informatics design.

For consumer health informatics (CHI) interventions to successfully aid laypeople, the interventions must fit and support their health work. This paper outlines a scenario-based human factors assessment of a disease management CHI intervention. Two student users undertook a patient use case and another user followed a nurse use case.

Diagnostic difficulties in glucokinase hyperinsulinism.

Glucokinase hyperinsulinism is a rare variant of congenital hyperinsulinism caused by activating mutations in the glucokinase gene and has been reported so far to be a result of overactivity of glucokinase within the pancreatic beta-cell. Here we report on a new patient with difficulties to diagnose persistent hyperinsulinism and discuss diagnostic procedures of this as well as the other reported individuals. After neonatal hypoglycemia, the patient was reevaluated at the age of 3 years for developmental delay.

Improving informed consent in bioinformatics research: a design-for-understanding approach.

Legally and ethically, researchers are required to ensure laypeople understand the informed consent process. Characteristics of the potential participants, their situation, and the study have been shown to affect laypeople's understanding. We propose a seven-step design-for-understanding approach to the development of an understandable informed consent document.

Are lay people ready for health information exchange?

The purpose of this study is to better understand lay people's readiness to participate in electronic health information exchange (HIE) by assessing their expectations and understanding towards these systems. This study continues the work of a project assessing lay people's understanding of personal health records (PHRs). Results of this exploratory work will be used to select terms to use in larger studies aimed at eliciting lay people's preferences and values related to participation in HIE.

Creating operations research models to guide RHIO decision making.

Eight years of progress towards the creation of a national health information network has resulted in a plethora of health data exchange relationships, most commonly called regional health information organizations (RHIOs). Various network types reflect both governance decisions and practical aspects, such as the need for a variety of information sharing pathways between and among organizations. Applying systematic business planning approaches will help ensure that decisions about structure, governance, pricing and incentive lead to RHIO arrangements that meet both the RHIOs' and the participants' business goals.

Prognostic significance of the therapeutic targets histone deacetylase 1, 2, 6 and acetylated histone H4 in cutaneous T-cell lymphoma.

Aims: Aberrant histone acetylation has been associated with malignancy and histone deacetylase (HDAC) inhibitors are currently being investigated in numerous clinical trials. So far, the malignancy most sensitive to HDAC inhibitors has been cutaneous T-cell lymphoma (CTCL). The reason for this sensitivity is unclear and studies on HDAC expression and histone acetylation in CTCL are lacking.

Comparison of measures for haplotype similarity.

Measuring the association of haplotype similarities with phenotype similarities has been used to develop statistical tests of genetic association. Previously, we applied the general approach of Mantel statistics to correlate genetic and phenotype similarity, where genetic similarity was defined by the number of intervals flanked by markers identical by state for pairs of haplotypes. Here we investigated in the case-control study design the effect on power of the Mantel statistics for five different measures of genetic similarity based on haplotypes: 1) the number of shared intervals, 2) the physical length of the shared intervals, 3) the genetic length of the shared intervals in centimorgans, 4) the genetic length of the shared intervals in linkage disequilibrium units (LDU) and 5) Yu's measure that attaches more weight to the sharing of rare than common alleles.

Monitoring the effect of belinostat in solid tumors by H4 acetylation.

Histone deacetylase (HDAC) inhibition is a novel entity in medical oncology, and several HDAC inhibitors are in clinical trials. One of them is the hydroxamic acid belinostat (PXD101) that has demonstrated therapeutic efficacy for several clinical indications. Acetylation of histones is a key event after treatment with HDAC inhibitors, and could thus be used as a marker for monitoring cellular response to HDAC inhibitor treatment.

Summary of contributions to GAW15 Group 13: candidate gene association studies.

Here we summarize the contributions to Group 13 of the Genetic Analysis Workshop 15 held in St. Pete Beach, Florida, on November 12-14, 2006. The focus of this group was to identify candidate genes associated with rheumatoid arthritis or surrogate outcomes.

Telomeres and aging-related meiotic dysfunction in women.

Meiotic dysfunction increasingly afflicts women as they age, resulting in infertility, miscarriage and handicapped offspring. How aging disrupts meiotic function in women remains unclear, but as women increasingly delay childbearing, this issue becomes urgent. Telomeres, which mediate aging in mitotic cells, may also mediate aging during meiosis.

Photographic data--An untapped resource to explore complex phenomena such as health information management in the household (HIMH).

Exploring the context of use for informatics tools and applications can provide insight into requirements for their design. Historically, photographs have been used by social scientists as a way to study context in complex environments. Using data collected in the study "Advanced technologies for Health@Home" we share how photographs can be used to understand one such complex environment where informatics tools appear, the household.

A nurse is a nurse? A systematic review of the effectiveness of specialised nursing in breast cancer.

The effectiveness of specialised nursing in breast cancer has received limited attention. This systematic literature review aims at (i) presenting and discussing role models of specialised nursing in the area of breast cancer and (ii) suggesting avenues for future research in this field. The ten studies included in the review differ with respect to the roles of specialised nurses as well as the measured outcome variables; thus, the comparability and generalisability of results are limited.

Health information exchange networks: understanding stakeholder views.

As the National Health Information Infrastructure (NHII) gains momentum, regional health information exchange networks are developing as a means to support this structure. While successful networks exist, their sustainability is complicated by the existence of multiple stakeholders with differing incentives for participation. Interviews conducted regarding the development of the NMESH network produced several key areas of stakeholder focus, an important step in creating network sustainability.

Modeling participation in the NHII: operations research approach.

Regional health information organizations (RHIOs) form the core building blocks of any approach to creating the National Health Information Infrastructure. RHIOs are computer-supported information sharing alliances composed of health care institutions that need to exchange clinical, financial or administrative data. Many uncertainties, including institution conversion costs, price-to-participate, and RHIO governance decisions make estimating the cost consequences difficult to establish.

The telomere theory of reproductive senescence in women.

Purpose Of Review: A unifying theory of reproductive aging, based on telomere shortening, is proposed.

Recent Findings: Telomere shortening may mediate both 'hits' involved in reproductive aging, that is late exit from the fetal production line and long interval to ovulation in the adult.

Summary: As women age egg dysfunction increases, with meiotic nondisjunction, embryonic arrest, apoptosis, and miscarriage.

Asynchronous colonization of Madagascar by the four endemic clades of primates, tenrecs, carnivores, and rodents as inferred from nuclear genes.

Madagascar harbors four large adaptive radiations of endemic terrestrial mammals: lemurs, tenrecs, carnivorans, and rodents. These rank among the most spectacular examples of evolutionary diversification, but their monophyly and origins are debated. The lack of Tertiary fossils from Madagascar leaves molecular studies as most promising to solve these controversies.