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Objective: To investigate potential genetic susceptibility for moyamoya disease (MMD) in an African American family. Methods: A young girl with MMD (proband), her father and paternal half-brother underwent cerebrovascular imaging with MRI and MRA. Cerebral angiography was also performed on the girl and her father. Genetic analysis of the MMD susceptibility gene RNF213 was conducted on all three relatives, while ACTA2 gene was analysed in the proband only. Results: The proband presented with pseudobulbar affect and chorea, then subsequently had a right hemispheric ischaemic stroke and rapid, ultimately fatal clinical decline. Detailed family history raised suspicion for familial MMD and investigation of her relatives. Her father had a small haemorrhagic thalamic stroke without residual neurologic deficits; a clinically silent ischaemic infarct was incidentally discovered on neuroimaging. He remains clinically stable despite slowly progressive disease on imaging. Her brother is neurologically intact and has normal cerebrovascular imaging to date. They are all heterozygous for the rare Arg4131Cys variant in RNF213. They are the first Black people and only the 3rd, 4th and 5th people in the world known to harbour this variant. MMD was confirmed in the girl and her father with cerebral angiogram. Conclusions: This study illuminates the clinical and genetic complexity of familial MMD. It underscores the importance of genetic testing and surveillance cerebrovascular imaging even in asymptomatic relatives of probands with MMD. Although the clinical significance of Arg4131Cys remains unclear, modest variant-disease segregation in this family is consistent with a growing body of evidence supporting its probable pathogenicity. Furthermore, our study illustrates its wide phenotypic spectrum, from asymptomatic carrier to late presenting, mild disease to fulminant, rapidly fatal childhood disease. To our knowledge, this is also the first report of heritable MMD in a Black family. We demonstrate the value of considering diseases more predominant in one specific ancestry when evaluating patients from other ethnic backgrounds. Finally, we highlight the importance of racially and ethnically diverse participants in biomedical research.

A 68-year-old man presented with fever and altered mental status 4 weeks following an ablation procedure for atrial fibrillation (AF). Head CT revealed multifocal embolic-appearing infarcts. Chest CT revealed air in the left atrial appendage (figure). These findings led to a diagnosis of cardioembolic stroke secondary to septic emboli from an atrioesophageal fistula (AEF). AEF may occur in up to 0.25% of AF ablations and manifests 1–6 weeks postprocedure with fever, stroke, and/or end-organ damage from septic emboli.1 Transthoracic echocardiogram and chest CT should be considered to rule out AEF in patients with neurologic decline following AF ablation.1,2

The increasing prevalence of chronic disease has been largely attributed to long-term poor nutrition and lifestyle choices. This study investigates the attitudes of our future physicians toward nutrition and the likelihood of incorporating nutrition principles into current treatment protocols.Setting: The setting of this study was an Australian university medical school.Subjects including year 1-4 students (n = 928) in a 4-year medical bachelor, bachelor of surgery (MBBS) degree program. Students were invited to participate in a questionnaire based on an existing instrument, the Nutrition in Patient Care Attitude (NIPC) Questionnaire, to investigate their attitudes toward nutrition in health care practices.Respondents indicated that "high risk patients should be routinely counseled on nutrition" (87%), "nutrition counseling should be routine practice" (70%), and "routine nutritional assessment and counseling should occur in general practice" (57%). However, despite overall student support of nutritional counseling (70%) and assessment (86%), students were reluctant to perform actual dietary assessments, with only 38% indicating that asking for a food diary or other measure of dietary intake was important.These findings demonstrate that future physicians are aware of the importance of considering nutrition counseling and assessment. However, students are unlikely to adequately integrate relevant nutritional information into their treatment protocols, evidenced by their limited use of a basic nutritional assessment. This is potentially the result of a lack of formal nutrition education within their basic training.

Conversion Disorder (CD) is a common stroke mimic of ischemic stroke (IS) or TIA. Although studies comparing stroke mimics with IS or TIA exist, there is a paucity of data comparing demographic and clinical features of CD and IS/TIA and evaluating diagnostic accuracy of CD via telemedicine. Methods: We retrospectively reviewed telestroke consultations at our center between April 2015 and July 2016. All patients were assessed remotely using telestroke service by physicians at the Ochsner Neuroscience Institute. Consultations were classified into one of 2 diagnostic categories: IS/TIA and CD; other stroke mimics were excluded. Initial diagnosis was compared with final diagnosis, determined after review of additional emergency department testing or hospital admission. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for diagnosis of CD were calculated. Bivariate analysis based on the diagnostic categories was used to examine association with sex, age, NIH Stroke Scale (NIHSS), stroke risk factors (CAD, DM, HLD, HTN, history of stroke/TIA, smoking, atrial fibrillation (AFIB)), TPA given, bleeding after TPA, and consult duration. Area under receiver-operating curve (AUC) for telestroke diagnostic accuracy of CD was calculated. Results: 616 telestroke evaluations were included in our analysis. Sensitivity, specificity, NPV, PPV of CD diagnosis were 0.82, 0.998, 0.985 and 0.976, respectively. Variables that reached statistical significance between CD and IS/TIA were female gender (0.0006), age ( Conclusions: Our unadjusted telemedicine CD diagnostic accuracy is 0.98. In the bivariate analysis CD patients are more likely to be female, younger, and have no history of DM, HTN or AFIB compared with IS/TIA patients. CD patients received shorter consult time compared with IS/TIA patients, and received less TPA. CD misdiagnosed cases had a longer median consultation time than correctly diagnosed cases.

High cholesterol is an important risk factor contributing to the global burden of disease. A WHO report estimated that it accounts for more than one-third of all deaths worldwide, and causes 18% of cerebrovascular disease (CVD) and 56% of ischaemic heart disease.1 The evidence that lipid-lowering drugs can reduce both lipid levels and the risk of heart attacks and strokes is well established. Lipid-lowering medications include statins, fibrates, niacin and bile acid resins. The effectiveness of statins is supported by large randomised trials and meta-analyses2 3 showing that the absolute reduction in LDL-cholesterol is linearly related to a reduction in the incidence of coronary and major vascular events.2 Statins are recommended as first-line therapy, whereas fibrates, niacin and bile acid resins are generally second-line therapy, alone or in combination with statins.4 5 Despite this evidence and the availability of guidelines, lipid-lowering therapy is still underused. Although recommendations about drug treatments vary between countries, most generally recommend statin treatment in people with clinical evidence of CVD to reduce further ischaemic events. In adults who have no history of a cardiovascular event, lipid-lowering medication is recommended if there is a 20% or greater risk of developing CVD in the next 10 years.4 Recommendations by the American College of Cardiology/American Heart Association have recently broadened the indications for lipid-lowering therapy, adding to the challenge of ensuring adequate treatment coverage.5 Adherence to treatment is important for optimal effectiveness. Adherence is defined as the extent to which people take medication as prescribed. A number of factors have been linked to poor adherence, such as lack of knowledge, denial, adverse effects, impaired memory and non-acceptance of treatment. Interventions to improve adherence to medication can focus on the person (patient education), the drug regimen (simplification of regimens), the physician (decision-making aids) …

Introduction: Given the rapid expansion of telestroke systems, an increasing number of patients with acute stroke-like presentations are receiving tele-evaluation for guidance of diagnostic and therapeutic decisions. There is limited data, however, regarding the accuracy of telestroke diagnosis. We examined the accuracy of telestroke diagnosis and evaluated predictors of misdiagnosis. Methods: We conducted a retrospective study of all telestroke consultations at our center between April 2015 and April 2016. Consultations were classified into one of 3 diagnostic categories: stroke/TIA, mimic, and uncertain. Telestroke diagnosis was compared with final diagnosis determined after review of additional emergency department testing or hospital admission. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for diagnosis of stroke/TIA vs mimic were calculated. Area under receiver-operating characteristic curve (AUC) analysis to predict true stroke was performed. Bivariate analysis based on the diagnostic categories examined association with sex, age, NIH Stroke Scale (NIHSS), stroke risk factors (CAD, DM, HLD, HTN, history of stroke/TIA, smoking), TPA given, bleeding after TPA, symptom onset to last known normal, symptom onset to consult, time of day of consult by 6 hour epoch, and consult duration. Logistic regression (LR) was performed as indicated by bivariate analysis. Results: 874 telestroke evaluations were included in our analysis. Sensitivity, specificity, PPV, NPV were 97.8%, 82.5%, 93.7% and 93.4%, respectively. AUC (95% CI) was 0.9061 (0.8749-0.9283). LR revealed OR (95% CI) of misdiagnosis for female gender of 1.9 (1.3-2.9). Conclusions: Our telestroke system is highly accurate in discriminating between stroke/TIA and stroke mimics with a tendency towards overdiagnosis of stroke. Female gender was associated with misdiagnosis.

Innovations in chronic disease management are growing rapidly as advancements in technology broaden the scope of tools. Older adults are less likely to be willing or able to use patient portals or smartphone apps for health-related tasks. The authors conducted a cross-sectional survey of older adults (ages ≥50) with hypertension or diabetes to examine relationships between portal usage, interest in health-tracking tools, and eHealth literacy, and to solicit practical solutions to encourage technology adoption. Among 247 patients surveyed in a large integrated delivery health system between August 2015 and January 2016, eHealth literacy was positively associated with portal usage (OR [95% CI]: 1.3 [1.2-1.5]) and interest in health-tracking tools (1.2 [1.1-1.3]). Portal users compared to nonusers (N = 137 vs.110) had higher rates of interest in using websites/smartphone apps to track blood pressure (55% vs. 36%), weight (53% vs. 35%), exercise (53% vs. 32%), or medication (46% vs 33%, all P 0.05). Portal users noted cumbersome processes for accessing portals and variations in provider availability for online scheduling and response times to messages. Portal nonusers expressed concerns about data security, lack of personalization, and limited perceived value of using portals. Both groups noted the importance of computer literacy and technical support. Patient stakeholders recommended marketing initiatives that capture patient stories demonstrating real-life applications of what patients can do with digital technology, how to use it, and why it may be useful. Health systems also must screen for eHealth literacy, provide training, promote proxy users, and institute quality assurance that ensures patients' experiences will not vary across the system.

Background Lipid-lowering drugs are widely underused, despite strong evidence indicating they improve cardiovascular end points. Poor patient adherence to a medication regimen can affect the success of lipid-lowering treatment. Objectives To assess the effects of interventions aimed at improving adherence to lipid-lowering drugs, focusing on measures of adherence and clinical outcomes. Search methods We searched the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, PsycINFO and CINAHL up to 3 February 2016, and clinical trials registers (ANZCTR and ClinicalTrials.gov) up to 27 July 2016. We applied no language restrictions. Selection criteria We evaluated randomised controlled trials of adherence-enhancing interventions for lipid-lowering medication in adults in an ambulatory setting with a variety of measurable outcomes, such as adherence to treatment and changes to serum lipid levels. Two teams of review authors independently selected the studies. Data collection and analysis Three review authors extracted and assessed data, following criteria outlined by the Cochrane Handbook for Systematic Reviews of Interventions. We assessed the quality of the evidence using GRADEPro. Main results For this updated review, we added 24 new studies meeting the eligibility criteria to the 11 studies from prior updates. We have therefore included 35 studies, randomising 925,171 participants. Seven studies including 11,204 individuals compared adherence rates of those in an intensification of a patient care intervention (e.g. electronic reminders, pharmacist-led interventions, healthcare professional education of patients) versus usual care over the short term (six months or less), and were pooled in a meta-analysis. Participants in the intervention group had better adherence than those receiving usual care (odds ratio (OR) 1.93, 95% confidence interval (CI) 1.29 to 2.88; 7 studies; 11,204 participants; moderate-quality evidence). A separate analysis also showed improvements in long-term adherence rates (more than six months) using intensification of care (OR 2.87, 95% CI 1.91 to 4.29; 3 studies; 663 participants; high-quality evidence). Analyses of the effect on total cholesterol and LDL-cholesterol levels also showed a positive effect of intensified interventions over both short- and long-term follow-up. Over the short term, total cholesterol decreased by a mean of 17.15 mg/dL (95% CI 1.17 to 33.14; 4 studies; 430 participants; low-quality evidence) and LDL-cholesterol decreased by a mean of 19.51 mg/dL (95% CI 8.51 to 30.51; 3 studies; 333 participants; moderate-quality evidence). Over the long term (more than six months) total cholesterol decreased by a mean of 17.57 mg/dL (95% CI 14.95 to 20.19; 2 studies; 127 participants; high-quality evidence). Included studies did not report usable data for health outcome indications, adverse effects or costs/resource use, so we could not pool these outcomes. We assessed each included study for bias using methods described in the Cochrane Handbook for Systematic Reviews of Interventions. In general, the risk of bias assessment revealed a low risk of selection bias, attrition bias, and reporting bias. There was unclear risk of bias relating to blinding for most studies. Authors' conclusions The evidence in our review demonstrates that intensification of patient care interventions improves short- and long-term medication adherence, as well as total cholesterol and LDL-cholesterol levels. Healthcare systems which can implement team-based intensification of patient care interventions may be successful in improving patient adherence rates to lipid-lowering medicines.