Learning from tragedy–The Jessica Barnett story: challenges in the diagnosis of long QT syndrome

We describe the case of Jessica Barnett, an adolescent girl whose repeated episodes of syncope and near-syncope were ascribed to a seizure or anxiety disorder. The correct diagnoses (congenital long QT syndrome; arrythmogenic right ventricular cardiomyopathy) were established by autopsy and genetic studies only after her death at age 17. The perspective of the family is presented, along with an analysis of what went right and what went wrong in Jessica’s diagnostic journey. Key lessons in this case include the value of family as engaged members of the diagnostic team, that a ‘hyperventilation test’ should not be used to exclude cardiac origins of syncope or pre-syncope, and the inherent challenges in the diagnosis of the long QT syndrome.

Refractory and resistant hypertension in patients with type 2 diabetes mellitus: differences in metabolic profile and endothelial function

Aim. To determine the prevalence of refractory hypertension (RfH) in patients with and without type 2 diabetes mellitus (DM), as well as to evaluate whether diabetic patients with RfH significant differ from those with uncontrolled resistant hypertension (RH) in clinical phenotype, metabolic profile and endothelial function. Materials and methods. The study included 193 patients with RH: RH 74 patients with diabetes and 119 patients without DM. Uncontrolled RH and RfH were defined by the presence of uncontrolled blood pressure BP (140 and/or 90 mm Hg) despite the use of 3 but 5 antihypertensive drugs (for RH) and 5 antihypertensive drugs, including a mineralocorticoid receptor antagonist (for RfH). Clinical examination, lab tests were performed. Flow-mediated dilation (FMD) and vasoreactivity of middle cerebral artery (MCA) using both breath-holding and hyperventilation test were measured by high-resolution ultrasound. Results. The prevalence of refractory hypertension in patients with and without DM was similar (30% vs 28%, respectively). No differences in BP levels, data of echocardiography and clinical phenotype were found between the diabetic groups, but value of HOMA index, plasma resistin level and postprandial glycaemia were higher in patients with RfH. FMD and MCA reactivity to the breath-holding test were worse in patients with RfH, and they had a more pronounced vasoconstrictor response of MCA to the hyperventilation test compared to patients with RH. Conclusion. The prevalence of RfH is the same in patients with and without diabetes. Diabetic patients with refractory hypertension have a more unfavorable metabolic profile and greater impairment of endothelial function than patients with uncontrolled resistant hypertension.

Do Dr. Google and Health Apps Have (Comparable) Side Effects? An Experimental Study

Googling and using apps for health-related information are highly prevalent worldwide. So far, little is known about the emotional, body-related, and behavioral effects of using both Google and health-related apps. In our experimental study, bodily symptoms were first provoked by a standardized hyperventilation test. A total of 147 participants (96.6% students) were then randomly assigned to one of three conditions: Googling for the causes of the currently experienced bodily symptoms, using a medical app to diagnose the experienced symptoms, and a waiting control condition. Health-related Internet use for symptoms led to stronger negative affect, increased health anxiety, and increased need to consult a physician compared with the control condition. Googling and using the medical app showed comparable adverse emotional and behavioral effects. The findings are in line with current models of cyberchondria in which health-related Internet use represents an essential factor in maintaining and amplifying emotional distress.