Citations

A patient presented with neuromuscular, respiratory and cardiac symptoms and was initially diagnosed with amyotrophic lateral sclerosis (ALS), myocardial ischaemia and pneumonia. He developed unexplained progressive kidney failure over the ensuing week, and his kidney biopsy showed thrombotic microangiopathy that led to the correct diagnosis of normotensive scleroderma renal crisis. His clinical presentation and course were consistent with systemic sclerosis and normotensive scleroderma renal crisis. He was treated with an ACE inhibitor (ACEi) and haemodialysis with significant functional improvement over the next 3 months to his prior baseline with the exception of kidney failure. This case highlights a diagnostic challenge requiring astute history and physical examination skills, and the value of a kidney biopsy in providing the final diagnosis.

Key Points Methylation analysis at ZAP-70 CpG+223 in CLL provides superior prognostic information vs IGHV status or CD38 or ZAP-70 expression. A pyrosequencing method for the feasible assessment of CpG+223 methylation in CLL samples is provided.

ABSTRACT Travel distance, growing disability, and uneven distribution of doctors limit access to care for most Parkinson's disease (PD) patients worldwide. Telemedicine, the use of telecommunications technology to deliver care at a distance, can help overcome these barriers. In this report, we describe the past, present, and likely future applications of telemedicine to PD. Historically, telemedicine has relied on expensive equipment to connect single patients to a specialist in pilot programs in wealthy nations. As the cost of video conferencing has plummeted, these efforts have expanded in scale and scope, now reaching larger parts of the world and extending the focus from care to training of remote providers. Policy, especially limited reimbursement, currently hinders the growth and adoption of these new care models. As these policies change and technology advances and spreads, the following will likely develop: integrated care networks that connect patients to a wide range of providers; education programs that support patients and health care providers; and new research applications that include remote monitoring and remote visits. Together, these developments will enable more individuals with PD to connect to care, increase access to expertise for patients and providers, and allow more‐extensive, less‐expensive participation in research. © 2014 International Parkinson and Movement Disorder Society

Abstract Purpose: Clustering of neural autoantibodies in patients with paraneoplastic neurologic disorders may predict tumor type. A mathematical analysis of neural autoantibody clusters was performed in 78,889 patients undergoing evaluation for a suspected paraneoplastic autoimmune neurologic disorder. Tumor predictive autoantibody profiles were confirmed in sera from patients with histologically proven tonsillar cancer, thymoma, and lung cancer. Patients and Methods: Of note, 78,889 patient sera were tested for 15 defined neural autoantibodies (1.2 million tests). The observed and hypothesized frequencies of autoantibody clusters were compared and their tumor associations defined. A tumor validation study comprised serum from 368 patients with a variety of tumors (thymoma, lung, or tonsil). Results: Informative oncological associations included (i) thymoma in 85% of patients with muscle striational, acetylcholine receptor antibodies plus CRMP5 autoantibodies; (ii) lung carcinoma in 80% with both P/Q-type and N-type calcium channel antibodies plus SOX1-IgG; and (iii) in men, prostate carcinoma frequency more than doubled when striational and muscle AChR specificities were accompanied by ganglionic AChR antibody. In women, amphiphysin-IgG alone was associated commonly with breast carcinoma, but amphiphysin-IgG, coexisting with antineuronal nuclear autoantibody-type 1 or CRMP5-IgG, was associated with lung cancer (P < 0.0001). In the validation cohorts, many tumor-associated profiles were encountered that matched the clusters identified in the screening study (e.g., 15% of thymoma patients had striational, acetylcholine receptor antibodies plus collapsin response-mediator protein-5 autoantibodies). Conclusions: Neural autoantibodies commonly coexist in specific clusters that are identifiable by comprehensive screening. Signature autoantibody clusters may predict a patient's cancer risk and type. Clin Cancer Res; 20(14); 3862–9. ©2014 AACR.

IntroductionAbandoned cardiovascular implantable electronic device (CIED) leads remain a contraindication to magnetic resonance imaging (MRI) studies, largely due to in vitro data showing endocardial heating secondary to the radiofrequency field. We tested the hypothesis that abandoned CIED leads do not pose an increased risk of clinical harm for patients undergoing MRI.MethodsThis single‐center retrospective study examined the outcomes of patients who had device generators removed before MRI, rendering the device leads abandoned. Information was gathered through chart review. Data collected included lead model, pacing threshold before MRI, anatomic region examined, threshold data after generator reimplantation, and clinical patient outcome.ResultsPatients (n = 19, 11 men and eight women) ranged in age from 19 to 85 at the time of MRI. There was a mean of 1.63 abandoned leads at the time of imaging; none of the leads were MRI conditional. Of the three implantable cardioverter defibrillator (ICD) leads, two of three were dual coil. Most (31/35) of the scans performed were of the central nervous system, including head and spinal imaging. There were no adverse events associated with MRI in any of these patients with abandoned leads within 7 days of the scan. No lead malfunctions or clinically significant change in pacing thresholds were noted with generator reimplantation.ConclusionThe use of MRI in patients with abandoned cardiac device leads appears feasible when performed under careful monitoring, with no adverse events, although the experience is small. MRI did not affect the function of leads that were subsequently reconnected to a cardiac device.

The practice of headache medicine is challenging, and excluding secondary causes of headaches is essential for proper diagnosis and treatment. The evaluation of secondary headaches often leads to investigations involving organ systems other than the nervous system. As such, headache, which is typically thought to be neurologic in origin, can be a manifestation of cardiac pathology in the form of cardiac cephalalgia. Conversely, chest pain, which is typically thought to be cardiac in origin, could be a manifestation of a neurologic disease process in the form of atypical migraine aura. In the presented cases, we demonstrate headaches that involve cardiac and neurologic pathology with atypical presentations.

AbstractOrbital meningiomas can be classified as primary optic nerve sheath (ON) meningiomas, primary intraorbital ectopic (Ob) meningiomas and spheno‐orbital (Sph‐Ob) meningiomas based on anatomic site. Single‐nucleotide polymorphism (SNP)‐based array analysis with the Illumina 300K platform was performed on formalin‐fixed, paraffin‐embedded tissue from 19 orbital meningiomas (5 ON, 4 Ob and 10 Sph‐Ob meningiomas). Tumors were World Health Organization (WHO) grade I except for two grade II meningiomas, and one was NF2‐associated. We found genomic alterations in 68% (13 of 19) of orbital meningiomas. Sph‐Ob tumors frequently exhibited monosomy 22/22q loss (70%; 7/10) and deletion of chromosome 1p, 6q and 19p (50% each; 5/10). Among genetic alterations, loss of chromosome 1p and 6q were more frequent in clinically progressive tumors. Chromosome 22q loss also was detected in the majority of Ob meningiomas (75%; 3/4) but was infrequent in ON meningiomas (20%; 1/5). In general, Ob tumors had fewer chromosome alterations than Sph‐Ob and ON tumors. Unlike Sph‐Ob meningiomas, most of the Ob and ON meningiomas did not progress even after incomplete excision, although follow‐up was limited in some cases. Our study suggests that ON, Ob and Sph‐Ob meningiomas are three molecularly distinct entities. Our results also suggest that molecular subclassification may have prognostic implications.

Mitral Valve Injury with Catheter AblationIntroductionAn increasing number of catheter ablations involve the mitral annular region and valve apparatus, increasing the risk of catheter interaction with the mitral valve (MV) complex. We review our experience with catheter ablation‐related MV injury resulting in severe mitral regurgitation (MR) to delineate mechanisms of injury and outcomes.MethodsWe searched the Mayo Clinic MV surgical database over a 19‐year period (1993–2012) and the electrophysiologic procedures database over a 23‐year period (1990–2013) and identified 9 patients with catheter ablation related MV injury requiring clinical intervention.ResultsIndications for ablation included atrial fibrillation (AF) [n = 4], ventricular tachycardia (VT) [n = 3], and left‐sided accessory pathways [n = 2]. In all 4 AF patients, a circular mapping catheter entrapped in the MV apparatus was responsible for severe MR. In all 3 VT patients, radiofrequency energy delivery led to direct injury to the MV apparatus. In the 2 patients with accessory pathways, both mechanisms were involved (1 per patient). Six patients required surgical intervention (5 MV repair, 1 catheter removal). One patient developed severe functional MR upon successful endovascular catheter disentanglement that improved spontaneously. Two VT patients with persistent severe postablation MR were managed nonsurgically, 1 of whom died 3 months postprocedure.ConclusionCircular mapping catheter entrapment and ablation at the mitral annulus are the most common etiologies of MV injury during catheter ablation. Close surveillance of the MV is needed during such procedures and early surgical repair is important for successful salvage if significant injury occurs.

Electromagnetic Interference with Ventricular Assist DeviceBackgroundHemodynamic instability hinders activation and entrainment mapping during ventricular tachycardia ablation. The Impella 2.5 microaxial flow device (MFD; Abiomed Inc., Danvers, MA, USA) is used to prevent hemodynamic instability during electrophysiologic study. However, electromagnetic interference (EMI) generated by this device can preclude accurate electroanatomic mapping.MethodsImpella was placed in the left ventricle of 7 canines for circulatory support. Electroanatomic mapping during sinus rhythm, ventricular pacing, and ventricular fibrillation (VF) was performed using magnet‐ (CARTO3, Biosense Webster Inc., Diamond Bar, CA, USA) and impedance‐ (EnSite Velocity System/EnSite NavX, St. Jude Medical Inc., St. Paul, MN, USA) based systems. Distance from device to points with severe EMI precluding acquisition was compared to points with mild/no EMI. Two methods were used to reduce EMI: (1) titration of MFD performance, and (2) impedance‐only mapping combined with manual annotation of activation.ResultsSevere EMI did not occur during impedance‐based mapping. Severe EMI was observed using CARTO3 at 9.4% of all points attempted at maximum performance level (P8) of device. Severe EMI occurred at points closer to device (40.1 ± 16.8 mm) versus (55.5 ± 20.0 mm) for mild/no EMI, P < 0.0001. Severe EMI using CARTO3 was resolved by either (1) reduction of performance from P8 to P6 or (2) impedance‐only mapping with manual annotation.ConclusionConcurrent use of MFD caused EMI to prevent acquisition of points with magnet‐based mapping. Predictors for EMI were distance from device and performance level. Temporary reductions to P6 or impedance‐only mapping are 2 methods to resolve EMI.