Experiences,considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims

Relatives of young sudden cardiac death (SCD) victims are at increased risk of carrying a potentially fatal inherited cardiac disease. Hence, it is recommended to perform an autopsy on the victim and to refer his or her relatives to a cardiogenetics clinic for a full evaluation to identify those at risk and allow preventive measures to be taken. However, at present, the number of families attending a cardiogenetics clinic after the SCD of a young relative is low in the Netherlands. We performed a qualitative study and report on the experiences and attitudes of first-degree relatives who attended a cardiogenetics clinic for evaluation. In total, we interviewed nine first-degree relatives and one spouse of seven SCD victims about their experiences, considerations and emotions before attendance and at the first stage of the cardiogenetic evaluation before DNA results were available. Interviews were transcribed verbatim and analysed. Medical professionals did not have an important role in informing or referring relatives to a cardiogenetics clinic. Importantly, all participants indicated that they would have appreciated a more directive approach from medical professionals, because their mourning process hampered their own search for information and decision-making. A need to understand the cause of death and wanting to prevent another SCD event occurring in the family were the most important reasons for attending a clinic. There are possibilities to improve the information process and better support their decision-making. The multidisciplinary cardiogenetic evaluation was appreciated, but could be improved by minor changes in the way it is implemented.     

Revolutionizing Child Welfare with Outcomes Management

Outcomes management technology holds great promise for improving the quality of services provided to youth in the child welfare system. Advantages include better detection of behavioral health and trauma-related issues, early indicators of case progress or risk of failure, and program- and system-level learning. Yet organizational barriers to implementation persist. Attention is spent in this paper on addressing these barriers so the use of outcomes management technology becomes a common practice. A model for predicting resiliency is presented, along with case examples demonstrating its potential use for treatment planning and monitoring progress.     

Pregnant intravenous drug user tricuspid valve infective endocarditis treated with a successful simultaneous valve replacement and Cesarean section

A 30‐year‐old female patient known to be an intravenous drug user (IVDU) was admitted to Bajcsy‐Zsilinszky Hospital Cardiology Intensive Care Unit at 29‐week gestation with severe sepsis and right heart failure. She had methicillin‐sensitive Staphylococcus aureus on blood culture. Echocardiography confirmed the diagnosis of tricuspid valve infective endocarditis (IE). She had acute deterioration and hemodynamic instability for which an emergency tricuspid valve replacement (TVR) with a simultaneous Cesarean section (CS) was performed simultaneously. Medical management is the standard treatment in IE of IVDU pregnant patients, but in case of life‐threatening complications, emergency TVR and CS are to be considered. This is the first reported case of IVDU IE treated with simultaneous TVR and CS.     

Prevention of colorectal cancer by colonoscopic surveillance in families with hereditary colorectal cancer

Objective. In recent years persons at risk for colorectal cancers (CRC) have been subjected to follow-up with colonoscopy in many centres. There is, however, limited knowledge about the effect of such interventions. The objective of this study was to report the results of our observations during the past 15 years. Material and methods. Healthy persons were included in the study according to their family history of CRCs, and prospectively followed with colonoscopies. Results. Altogether, 1133 individuals were included and observed for a total of 3474 follow-up years from the first to the last colonoscopy initiated by our activity. Mismatch repair (MMR) mutations were detected in 6.5% of cases. A total of 1383 polyps were removed, 72% were less than 5 mm in diameter. Findings were scored as hyperplastic polyps (n=887), adenomas with mild to moderate dysplasia (n=460), adenomas with high-grade dysplasia (n=30) and cancers (n=6). Two cancers were observed after the first colonoscopy, compared with 2.6 expected by chance and more than 20 expected under the hypothesis of predominant inherited diseases in the families. Observed annual incidence rates for adenomas were similar in all groups, while in the mutation carriers there was a higher frequency of progression to severe dysplasia or infiltrating cancer. Conclusions. A simple explanation for the combined findings may be that all selected families had a similar tendency to produce adenomas, while mutation carriers more frequently demonstrated dysplasia/cancer in the adenomas. The low annual incidence rates for CRC indicated that the removal of adenomas may have prevented cancers.     

Targeting Survivin in Cancer: Novel Drug Development Approaches

Survivin is a well-established target in experimental cancer therapy. The molecule is over-expressed in most human tumors, but hardly detectable in normal tissues. Multiple functions in different subcellular compartments have been assigned. It participates in the control of cell division, apoptosis, the cellular stress response, and also in the regulation of cell migration and metastasis. Survivin expression has been recognized as a biomarker: high expression indicates an unfavorable prognosis and resistance to chemotherapeutic agents and radiation treatment. Survivin is an unconventional drug target and several indirect approaches have been exploited to affect its function and the phenotype of survivin-expressing cells. Interference with the expression of the survivin gene, the utilization of its messenger RNA, the intracellular localization, the interaction with binding partners, the stability of the survivin protein, and the induction of survivin-specific immune responses have been taken into consideration. A direct strategy to inhibit survivin has been based on the identification of a specifically interacting peptide. This peptide can recognize survivin intracellularly and cause the degradation of the ligand–survivin complex. Technology is being developed that might allow the derivation of small molecular-weight, drug-like compounds that are functionally equivalent to the peptide ligand.