Advance Care Planning in Huntington's Disease.

Advance care planning (ACP) is a useful tool that benefits adult patients, care providers, and surrogate decision makers, through providing opportunities for patients to consider, express, and formalize their beliefs, preferences, and wishes pertaining to decisions regarding future medical care at a time when they retain decision-making capacity. Early and timely consideration of ACP discussions is paramount in Huntington's disease (HD) given the potential challenges in ascertaining decision-making capacity in the advanced stages of the disease. ACP helps to empower and extend patient autonomy, providing clinicians and surrogate decision makers with reassurance that management is consistent with a patient's expressed wishes. Regular follow up is vital to establish consistency of decisions and wishes. We outline the framework of the dedicated ACP clinic integrated within our HD service to highlight the importance of a patient-centred and tailored care plan that fulfils the patient's expressed goals, preferences, and values.

International Guidelines for the Treatment of Huntington's Disease.

The European Huntington's Disease Network (EHDN) commissioned an international task force to provide global evidence-based recommendations for everyday clinical practice for treatment of Huntington's disease (HD). The objectives of such guidelines are to standardize pharmacological, surgical and non-pharmacological treatment regimen and improve care and quality of life of patients. A formalized consensus method, adapted from the French Health Authority recommendations was used. First, national committees (French and English Experts) reviewed all studies published between 1965 and 2015 included dealing with HD symptoms classified in motor, cognitive, psychiatric, and somatic categories. Quality grades were attributed to these studies based on levels of scientific evidence. Provisional recommendations were formulated based on the strength and the accumulation of scientific evidence available. When evidence was not available, recommendations were framed based on professional agreement. A European Steering committee supervised the writing of the final recommendations through a consensus process involving two rounds of online questionnaire completion with international multidisciplinary HD health professionals. Patients' associations were invited to review the guidelines including the HD symptoms. Two hundred and nineteen statements were retained in the final guidelines. We suggest to use this adapted method associating evidence base-medicine and expert consensus to other rare diseases.

27 years of prenatal diagnosis for Huntington disease in the United Kingdom.

PURPOSE: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families' decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced. METHODS: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988-2015, and four UK PGD centers 2002-2015. RESULTS: From 1988 to 2015, 479 prenatal diagnoses were performed in the UK for HD. An exclusion approach was used in 150 (31%). The annual rate of HD prenatal diagnosis has remained around 18 (3.5/million) over 27 years, despite a steady increase in the use of PGD for HD since 2002. CONCLUSION: Although increasing number of couples are choosing either direct or exclusion PGD to prevent HD in their offspring, both direct and exclusion prenatal diagnosis remain important options in a health system where both PGD and prenatal diagnosis are state funded. At-risk couples should be informed of all options available to them, preferably prepregnancy.

Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey.

BACKGROUND: Little is known about the organization of clinical services for Huntington's disease (HD). OBJECTIVE: To describe how health care services are organized and delivered in HD-clinics taking part in or eligible for the Enroll-HD study. METHODS: In 2014, a 69-item survey was administered to sites taking part in or eligible for the Enroll-HD study. RESULTS: Of 231 sites surveyed, 121 (52.2%) sites in Europe, North America, Latin America, and Oceania responded. Most sites in the sample serve large populations, with 61.1% serving more than 1.5 million people, and a further 33% serving >500,000. Almost all (86.0%) centers see patients from outside their region. The majority of centers (59.7%) follow 50-199 patients, 21.9% care for more than 200. Most centers provide care in all stages of HD, and nearly all review pre-symptomatic cases. Multidisciplinary case reviews are offered in 54.5% of sites, with outreach clinics offered by 48.1%. Videoconferencing and telemedicine are used by 23.6%. Separate consultations for caregivers are offered in more than half of the centers. Most centers (70.4%) report following published guidelines or local care pathways for HD. CONCLUSIONS: Most centers serve a large population and use a multidisciplinary approach. The survey gives insight into factors underpinning HD service delivery globally. There is a need for more in-depth studies of clinical practice to understand how services are organized and how such features may be associated with quality of care.

A pragmatic multi-centre randomised controlled trial of fluid loading in high-risk surgical patients undergoing major elective surgery--the FOCCUS study.

INTRODUCTION: Fluid strategies may impact on patient outcomes in major elective surgery. We aimed to study the effectiveness and cost-effectiveness of pre-operative fluid loading in high-risk surgical patients undergoing major elective surgery. METHODS: This was a pragmatic, non-blinded, multi-centre, randomised, controlled trial. We sought to recruit 128 consecutive high-risk surgical patients undergoing major abdominal surgery. The patients underwent pre-operative fluid loading with 25 ml/kg of Ringer's solution in the six hours before surgery. The control group had no pre-operative fluid loading. The primary outcome was the number of hospital days after surgery with cost-effectiveness as a secondary outcome. RESULTS: A total of 111 patients were recruited within the study time frame in agreement with the funder. The median pre-operative fluid loading volume was 1,875 ml (IQR 1,375 to 2,025) in the fluid group compared to 0 (IQR 0 to 0) in controls with days in hospital after surgery 12.2 (SD 11.5) days compared to 17.4 (SD 20.0) and an adjusted mean difference of 5.5 days (median 2.2 days; 95% CI -0.44 to 11.44; P = 0.07). There was a reduction in adverse events in the fluid intervention group (P = 0.048) and no increase in fluid based complications. The intervention was less costly and more effective (adjusted average cost saving: £2,047; adjusted average gain in benefit: 0.0431 quality adjusted life year (QALY)) and has a high probability of being cost-effective. CONCLUSIONS: Pre-operative intravenous fluid loading leads to a non-significant reduction in hospital length of stay after high-risk major surgery and is likely to be cost-effective. Confirmatory work is required to determine whether these effects are reproducible, and to confirm whether this simple intervention could allow more cost-effective delivery of care. TRIAL REGISTRATION: Prospective Clinical Trials, ISRCTN32188676.

Usefulness of neutrophil/lymphocyte ratio as predictor of new-onset atrial fibrillation after coronary artery bypass grafting.

The neutrophil/lymphocyte (N/L) ratio integrates information on the inflammatory milieu and physiologic stress. It is an emerging marker of prognosis in patients with cardiovascular disease. We investigated the relation between the N/L ratio and postoperative atrial fibrillation (AF) in patients undergoing coronary artery bypass grafting. In a prospective cohort study, 275 patients undergoing nonemergency coronary artery bypass grafting were recruited. Patients with previous atrial arrhythmia or requiring concomitant valve surgery were excluded. The N/L ratio was determined preoperatively and on postoperative day 2. The study end point was AF lasting >30 seconds. Patients who developed AF (n = 107, 39%) had had a greater preoperative N/L ratio (median 3.0 vs 2.4, p = 0.001), but no differences were found in the other white blood cell parameters or C-reactive protein. The postoperative N/L ratio was greater in patients with AF (day 2, median 9.2 vs 7.2, p <0.001), and in multivariate models, a greater postoperative N/L ratio was independently associated with a greater incidence of AF (odds ratio 1.10 per unit increase, p = 0.003: odds ratio for N/L ratio >10.14 [optimal postoperative cutoff in our cohort], 2.83 per unit, p <0.001). Elevated pre- and postoperative N/L ratios were associated with an increased occurrence of AF after coronary artery bypass grafting. In conclusion, these results support an inflammatory etiology in postoperative AF but suggest that other factors are also important.

Use of preoperative natriuretic peptides and echocardiographic parameters in predicting new-onset atrial fibrillation after coronary artery bypass grafting: a prospective comparative study.

BACKGROUND: Atrial fibrillation (AF) is a common complication after coronary artery bypass grafting (CABG). We prospectively compared the ability of echocardiographic parameters and the cardiac neurohormones, brain natriuretic peptide (BNP), and N-terminal pro-brain natriuretic peptide (NT-proBNP) to predict AF in this setting. METHODS: We recruited 275 patients undergoing nonemergency CABG. Patients undergoing valve surgery or with prior atrial dysrhythmia (based on clinical history and review of medical records) were excluded. Echocardiography was performed, and natriuretic peptide levels were measured, 24 hours before surgery. The primary end point was postoperative AF lasting >30 seconds. RESULTS: The only significant echocardiographic predictors of postoperative AF (n = 107, 39%) were the transmitral E to A-wave ratio and the early mitral annulus velocity. Levels of BNP and NT-proBNP were higher in patients who developed AF. Both natriuretic peptides, but none of the echocardiographic parameters, remained independently predictive in multivariable analysis. The optimum cut points for predicting AF were 31 pg/mL for BNP (odds ratio [OR] 2.74, P = .001) and 74 pg/mL for NT-proBNP (OR 2.74, P = .003). CONCLUSION: Levels of BNP and NT-proBNP are independent, though modestly effective, predictors of AF after isolated CABG. In contrast, none of the echocardiographic parameters assessed, including measures of LV systolic function and filling pressure, were independently predictive.