Citations

Abstract BACKGROUND New onset resistant hypertension in a previously stable patient with chronic hypertension should lead to consideration of secondary causes. Electrolyte abnormalities are useful clues for identifying some common causes, especially mineralocorticoid excess. CASE PRESENTATION We report the case of a 69-year-old man who developed severe resistant hypertension despite the use of 6 antihypertensive medications, including diuretics. He had metabolic alkalosis and hypokalemia with suppressed plasma renin activity and serum aldosterone. Concurrently, he was diagnosed with small cell neuroendocrine carcinoma of the prostate gland, a rare form of prostate cancer. Despite absence of typical Cushingoid features, investigation confirmed the diagnosis of ectopic adrenocorticotropic hormone (ACTH) syndrome from neuroendocrine prostate cancer. Because of the severity of his hypercortisolism, he underwent urgent bilateral adrenalectomy for hormonal and symptomatic control. Blood pressure improved significantly and he was dismissed with a single antihypertensive agent. Unfortunately, the patient died from his cancer 1 month later. CONCLUSION Primary and secondary hyperaldosteronism are usually diagnosed based on measurements of aldosterone and plasma renin activity. However, if plasma renin activity and aldosterone are both low, rare causes of mineralocorticoid excess such as ectopic ACTH syndrome should be entertained.

Although glioblastoma (GBM) is a fatal primary brain cancer with short median survival of 15 months, a small number of patients survive >5 years after diagnosis; they are known as extreme survivors (ES). Because of their rarity, very little is known about what differentiates these outliers from other patients with GBM. For the purpose of identifying unknown drivers of extreme survivorship in GBM, the ENDURES consortium (ENvironmental Dynamics Underlying Responsive Extreme Survivors of GBM) was developed. This consortium is a multicenter collaborative network of investigators focused on the integration of multiple types of clinical data and the creation of patient-specific models of tumor growth informed by radiographic and histologic parameters. Leveraging our combined resources, the goals of the ENDURES consortium are 2-fold: (1) to build a curated, searchable, multilayered repository housing clinical and outcome data on a large cohort of ES patients with GBM; and (2) to leverage the ENDURES repository for new insights into tumor behavior and novel targets for prolonging survival for all patients with GBM. In this article, the authors review the available literature and discuss what is already known about ES. The authors then describe the creation of their consortium and some preliminary results.

Abstract Aims Pathogenic gain-of-function variants in CACAN1C cause type-8 long QT syndrome (LQT8). We sought to describe the electrocardiographic features in LQT8 and utilize molecular modelling to gain mechanistic insights into its genetic culprits. Methods and results Rare variants in CACNA1C were identified from genetic testing laboratories. Treating physicians provided clinical information. Variant pathogenicity was independently assessed according to recent guidelines. Pathogenic (P) and likely pathogenic (LP) variants were mapped onto a 3D modelled structure of the Cav1.2 protein. Nine P/LP variants, identified in 23 patients from 19 families with non-syndromic LQTS were identified. Six variants, found in 79% of families, clustered to a 4-residue section in the cytosolic II–III loop region which forms a region capable of binding STAC SH3 domains. Therefore, variants may affect binding of SH3-domain containing proteins. Arrhythmic events occurred in similar proportions of patients with II–III loop variants and with other P/LP variants (53% vs. 48%, P = 0.41) despite shorter QTc intervals (477 ± 31 ms vs. 515 ± 37 ms, P = 0.03). A history of sudden death was reported only in families with II–III loop variants (60% vs. 0%, P = 0.03). The predominant T-wave morphology was a late peaking T wave with a steep descending limb. Exercise testing demonstrated QTc prolongation on standing and at 4 min recovery after exercise. Conclusion The majority of P/LP variants in patients with CACNA1C-mediated LQT8 cluster in an SH3-binding domain of the cytosolic II–III loop. This represents a ‘mutation hotspot’ in LQT8. A late-peaking T wave with a steep descending limb and QT prolongation on exercise are commonly seen.

AbstractNeuromuscular ultrasound has become an essential tool in the diagnostic evaluation of various neuromuscular disorders, and, as such, there is growing interest in neuromuscular ultrasound training. Effective training is critical in mastering this modality. Our aim was to develop consensus‐based guidelines for neuromuscular ultrasound training courses. A total of 18 experts participated. Expert opinion was sought through the Delphi method using 4 consecutive electronic surveys. A high degree of consensus was achieved with regard to the general structure of neuromuscular ultrasound training; the categorization of training into basic, intermediate, and advanced levels; the learning objectives; and the curriculum for each level. In this study, a group of neuromuscular ultrasound experts established consensus‐based guidelines for neuromuscular ultrasound training. These guidelines can be used in the development of the specialty and the standardization of neuromuscular ultrasound training courses and workshops.

Background: Seventy percentage of patients who receive paclitaxel have diffuse, refractory myalgias, and arthralgias. Based on anecdotal reports, this study explored whether loratadine, an antihistamine, palliates these symptoms. Methods: The medical records of postoperative ovarian and patients with endometrial cancer were studied, as these patients are routinely prescribed paclitaxel. Records were screened for patients who received paclitaxel and loratadine concurrently. Results: Forty patients are the focus of this report. Eight had paclitaxel-induced myalgias and arthralgias and then took loratadine; of these, 6 (75%; 95% confidence interval: 35%, 97%) manifested evidence of symptom improvement: “She did experience some migrating generalized body aches and pains…but this has resolved.” Of those already receiving loratadine but with no myalgias and arthralgias, only 11 of 32, or 34% (95% confidence interval: 19%, 53%), developed myalgias and arthralgias (in contrast to the previously reported symptom rate of 70%). No adverse events were clearly attributed to loratadine. Conclusion: These preliminary data support further study of loratadine for paclitaxel-induced myalgias and arthralgias.

Background: Post–cardiac surgery bleeding can have devastating consequences, and it is unknown if warfarin-induced rapid international normalized ratio (INR) rise during the immediate postoperative period increases bleed risk. Objective: To determine the impact of warfarin-induced rapid-rise INR on post–cardiac surgery bleeding. Methods: This was a single-center, retrospective chart review of post–cardiac surgery patients initiated on warfarin at Mayo Clinic Hospital, Rochester. Patients were grouped based on occurrence or absence of rapid-rise INR (increase ≥1.0 within 24 hours). The primary outcome compared bleed events between groups. Secondary outcomes assessed hospital length of stay (LOS) and identified risk factors associated with bleed events and rapid rise in INR. Results: During the study period, 2342 patients were included, and 56 bleed events were evaluated. Bleed events were similar between rapid-rise (n = 752) and non–rapid-rise (n = 1590) groups in both univariate (hazard ratio [HR] = 1.22; P = 0.594) and multivariable models (HR = 1.24; P = 0.561). Those with rapid-rise INR had longer LOS after warfarin administration (discharge HR = 0.84; P = 0.0002). The most common warfarin dose immediately prior to rapid rise was 5 mg. Risk factors for rapid-rise INR were low body mass index, female gender, and cross-clamp time. Conclusion and Relevance: This represents the first report to assess warfarin-related rapid-rise INR in post–cardiac surgery patients and found correlation to hospital LOS but not bleed events. Conservative warfarin dosing may be warranted until further research can be conducted.

Purpose: We present a unique technique applying F-wave latencies to assist in the diagnosis of peripheral neuropathy within the pediatric age group. Methods: We calculated an F-wave estimated deviance adjusted for limb length measurements, distal motor conduction velocity, and distal motor latencies. We compared the F-wave estimated deviance from the normal subjects with those with peripheral neuropathy (both axonal and demyelinating) to establish diagnostic accuracy in pediatric patients. Results: The normal range for the F-wave estimated deviance in the upper limb was −1 to +6 ms and in the lower limb was −8 to +5 ms. When compared with 82 subjects with peripheral neuropathy, there was a significant difference between the normal subjects and those with neuropathy (P values between 0.002 and 0.0005 for each of the individual nerves tested). Conclusions: The F-wave estimated deviance is independent of age and can be accurately applied to the electrodiagnostic testing of pediatric patients with suspected neuropathy.