Family screening in patients with isolated bicuspid aortic valve : Restriction to those with aortic dilatation is not justified.

AIM: To determine the prevalence of undiagnosed bicuspid aortic valve (BAV) and isolated aortic dilatation in first-degree relatives (FDRs) of patients with isolated BAV and to explore the recurrence risk of BAV in different subgroups of probands with BAV. Recent American College of Cardiology (ACC)/American Heart Association (AHA) Guidelines recommend family screening in patients with associated aortopathy only. METHODS: During follow-up visits, patients with isolated BAV received a printed invitation for their FDRs advising cardiac screening. RESULTS: From 2012-2019, 257 FDRs of 118 adult BAV patients were screened, among whom 63 (53%) index patients had undergone aortic valve surgery (AVS), including concomitant aortic replacement in 25 (21%). Of the non-operated index patients, 31 (26%) had aortic dilatation (> 40 mm). Mean age of the FDRs was 48 years (range 4-83) and 42% were male. The FDR group comprised 20 parents, 103 siblings and 134 offspring. Among these FDRs, 12 (4.7%) had a previously undiagnosed BAV and 23 (8.9%) had an isolated aortic dilatation. FDRs of the probands with previous AVS (n = 147) had a risk ratio for BAV of 2.25 (95% confidence interval (CI) 0.62-8.10). FDRs of the probands with BAV and repaired or unrepaired aortic dilatation (n = 127) had a risk ratio for BAV of 0.51 (95% CI 0.16-1.66). CONCLUSION: Screening FDRs of patients with isolated BAV resulted in a reasonable yield of 14% new cases of BAV or isolated aortic dilatation. A trend towards an increased risk of BAV in FDRs was observed in the probands with previous AVS, whereas this risk seemed to be diminished in the probands with associated aortic dilatation. This latter finding does not support the restrictive ACC/AHA recommendation.

Building momentum for local action on problem gambling in Leeds and Yorkshire.

Problem gambling has not been a priority within either Leeds City Council or partnership plans. However, financial inclusion, licencing and public health teams have been able to develop a cross-Council approach to problem gambling. This has been aided by an upfront payment plus annual payments to the Council that have been part of the licencing agreement for a new casino. As a result, research has been commissioned on local prevalence. This showed a higher rate of problem gamblers (1.8%) than national estimates with a similar level to nationally of those 'at risk'. The research also showed that local services had difficulties identifying problem gamblers and signposting for support. This had led to a high profile communications campaign to coincide with 'Responsible Gambling Week' complemented by training for frontline workers. The interviews undertaken for the research, plus the findings themselves, have been a powerful help in securing interest and commitment beyond the Council and to the health and third sectors. The use of local stories has helped build momentum for partnership working. For example, focus groups to explore how gambling affected migrants and medical student interviews with university students. The article will describe how increasing understanding across partners has helped build confidence to provide cross city responses to national consultations and contribute to national publications and conferences. Of even greater significance, the local National Health Service has secured funding from GambleAware for a Northern Gambling Service to be based in Leeds with satellites in the North East and Greater Manchester. This will provide treatment for those with severe gambling addiction. Additional support will come from a significant increased provision of GamCare services working to identify, screen and support problem gamblers. The use of Council premises for both of these services is testament to joint working. Recognising that this is a new emerging agenda has led to the creation of a Yorkshire and Humber Problem Gambling Working Group, endorsed by the Association of Directors of Public Health. This has resulted in shared learning and determining a consistent approach to harm. Even during a short time, the degree of interest has risen substantially. A regional gambling harm reduction framework has been produced that sets out a menu of actions. This intends to help local areas determine their own priorities. There is increasing recognition that problem gambling is a public health issue. Leadership requires a systems led, and Health in All Policies, approach to ensure problem gambling is not seen as a narrow niche issue led by public health staff. There is a need to recognise that engagement takes time. However, this is a new and emerging issue. The solutions to problem gambling are not clear and this allows for more creative, pragmatic and coproduced approaches.

Related hematopoietic cell donor care: is there a role for unrelated donor registries?

In almost half of allogeneic hematopoietic progenitor cell (HPC) transplants, a related donor (RD) is used, yet a lack of standardized guidelines means that their care is heterogeneous. Changes to regulatory standards aim to improve uniformity, but adherence to these regulations can prove logistically difficult for the transplant centers (TCs) managing RDs. Discussion has ensued around possible alternative models of related donor care and a session at the European Society for Blood and Marrow Transplantation (EBMT) annual meeting in 2013 debated the question of whether a role exists for unrelated donor registries in the management of 'related' donors. In this overview, we discuss the issues raised at this debate and the pros and cons of donor registry involvement in various aspects of RD management. By examining existing models of related donor care that have been adopted by members of the World Marrow Donor Association (WMDA), we look for ways to enhance and homogenize RD care, while also enabling transplant centers to meet standards required for mandatory accreditation.

A calcified sinutubular junction: the discovery of a supravalvular aortic stenosis in an elderly woman.

We report a case of a 64 year old woman with a calcified ring at the level of the sinotubular junction. Echocardiography and Computed Tomography showed a supravalvular aortic stenosis, without known associated lesions, except for the existence of an aberrant right subclavian artery. These combination of abnormalities makes it an unique case. Differential diagnosis of sinutubular calcification is added. From the literature a short review of supravalvular aortic stenosis is presented with indications for surgical intervention. Lifelong and regular follow up is necessary.

A ventricular septal defect with a giant appendiform aneurysm of the membranous septum.

We report a case of a 39-year-old female with a ventricular septal defect (VSD) and a giant appendiform aneurysm of the membranous septum, illustrated by echocardiography and magnetic resonance imaging. From the literature a short review of the prevalence of spontaneous closure of VSDs together with the possible complications of persisting VSDs is presented. Since patients stay at risk in later years, follow-up at regular intervals is advised.

Innate immune activation of swine intestinal epithelial cell lines (IPEC-J2 and IPI-2I) in response to LPS from Salmonella typhimurium.

The innate immune system has the basic function of identifying and eradicating microbial invaders and alerting the adaptative immune system to their presence. In this study, the porcine intestinal innate immune response was evaluated by analysing the expression of TLRs, cytokines and chemokines in two porcine epithelial cell lines from different regions: IPEC-J2 (jejunum) and IPI-2I (ileum). Both cells lines were stimulated with 1microg of LPS from Salmonella typhimurium. RNA was collected at 30min, 1, 2, 3 and 4h after treatment. Expression of TLR-1, -2, -3, -4, -6, -8, -9, -10, TNF-alpha, IL-1beta, -8 and MCP-1 was quantified relative to the quantity of Cyclophilin-A mRNA using real-time quantitative PCR (RTQ-PCR). The results obtained show up differences in the gene expression between both cell lines IPEC-J2 and IPI-2I as response to LPS from S. typhimurium during the activation time, which may suggest an in vivo variability in the innate immune response against pathogens in different regions of the host's gut.

Health-related quality of life of chronic headache patients is predicted by the emotional component of their pain.

Questions to be answered by this study were: (1) what is the health-related quality of life (HRQL) of migraine and tension headache patients who consult their general practitioner, and (2) what are the unique contributions of the perceptual and emotional components of headaches to the HRQL. The Nottingham Health Profile (NHP) was used to measure the HRQL of patients with migraine (n = 27), tension headache (n = 25), both migraine and tension headache (n = 17), and two reference groups. Perceptual components of the pain (intensity, frequency, and duration) were measured with a headache diary, while emotional components were measured with five visual analogue scales (for tension, depression, frustration, anger and fear). The NHP dimensions of pain, sleep, energy, and social isolation revealed that each headache patient group had a lower HRQL than the healthy reference group. There were no differences in HRQL between the headache groups. Regarding the second question: it was found that the greater the patient's emotional pain, the more problems he or she had with physical mobility and social isolation. Neither the type of headache nor the headache index were related to the HRQL of the patient. We recommend to increase the research efforts concerning tension headache and to measure the emotional component of pain in clinical trials.

Structuring medical practice acquisitions.

A successful medical practice acquisition requires both the buyer and the seller to understand the complex legal and business issues that arise throughout the negotiation of the transaction. This article surveys the key issues involved in setting the purchase price, determining how that price will be paid, deciding whether to acquire assets or stock, establishing a physician employment agreement, and addressing the concerns of nonphysician staff.