Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet 2008: 73: 430–440. © Blackwell Munksgaard, 200

Dental profile of patients with Gaucher disease

BACKGROUND: This study was conducted to determine whether patients with Gaucher disease had significant dental pathology because of abnormal bone structure, pancytopenia, and coagulation abnormalities. METHODS: Each patient received a complete oral and periodontal examination in addition to a routine hematological evaluation. RESULTS: Gaucher patients had significantly fewer carious lesions than otherwise healthy carriers. Despite prevalence of anemia, there was no increase in gingival disease; despite the high incidence of thrombocytopenia, gingival bleeding was not noted; and despite radiological evidence of bone involvement, there was no greater incidence loss of teeth or clinical tooth mobility. CONCLUSIONS: These data represent the first survey of the oral health of a large cohort of patients with Gaucher disease. It is a pilot study of a unique population and the results of the investigation are indications for further research. Based on our findings, we recommend regular oral examinations with appropriate dental treatment for patients with Gaucher disease as for other individuals. Consultation between the dentist and physician, preferably one with experience with Gaucher disease, should be considered when surgical procedures are planned

Diagnosing Pheochromocytoma in the COVID-19 Era: A Case Report

Introduction: Pheochromocytomas and paragangliomas are rare neuroendocrine tumors that secrete catecholamines. Symptoms of these tumors are related directly to catecholamine excess but can be intermittent and easily misattributed to other, more common pathologies. Identification in the emergency department (ED) is inherently difficult. During the coronavirus 2019 (COVID-19) pandemic, physicians have had to account for both the disease itself as well as associated increased prevalence of cardiac, pulmonary, and vascular complications.  Such shifting of disease prevalence arguably makes rarer diseases like pheochromocytoma less likely to be recognized.Case Report: We report a case of pheochromocytoma in a patient who presented to the ED in the fall of 2020, at a regional height of the COVID-19 pandemic, with complaints of fatigue, tachycardia, and diaphoresis. The differential diagnosis included pulmonary embolism, cardiomyopathy, congestive heart failure, and infectious causes. A broad workup was begun that included serology, electrocardiogram, computed tomography angiogram (CTA), and COVID-19 testing. Imaging was consistent with COVID-19 infection, and laboratory testing confirmed the diagnosis. A tiny retroperitoneal tumor was reported on CTA as “incidental” in the setting of multifocal pneumonia from severe acute respiratory syndrome coronavirus 2 infection. Additional history-taking revealed many years of intermittent symptoms suggesting that the tumor may have been more contributory to the patient’s presentation than originally suspected. Subsequent magnetic resonance imaging and surgical pathology confirmed the dual diagnosis of pheochromocytoma and COVID-19 pneumonia.Conclusion: This case presentation highlights the importance of careful history-taking, keeping a broad differential, and examining incidental findings in the context of the patient’s presentation

Using EMS Dispatch to Trigger STEMI Alerts Decreases Door-to-Balloon Times

Introduction: We sought to determine the potential reduction in door-to-balloon time (DTB) by allowing paramedics to perform prehospital ST-Elevation Myocardial Infarction (STEMI) notification using brief communications via emergency medical services (EMS) 9-1-1 dispatchers as soon as they saw a STEMI on 12-lead electrocardiogram (EKG). Our hypothesis was that earlier cardiac catheterization lab (CCL) activation would improve overall DTB and avoid delays arising from on-scene issues or the time required to deliver a full report. Methods: The study setting was a single suburban community teaching hospital, which is a regional percutaneous coronary intervention (PCI) center with more than 120,000 Emergency Department (ED) visits/year and is serviced by a single tiered-response, advanced life support (ALS) paramedic-level agency. STEMI notifications from July 2009 to July 2012 occurred by either standard direct EMS-to-physician notification or by immediate 9-1-1 dispatch notification. In the 9-1-1 dispatcher-aided notification method, paramedics were asked to provide a brief one-sentence report using their lapel microphones upon immediate realization of a diagnostic EKG (usually within 1-2 minutes of patient contact). This report to the 9-1-1 dispatcher included the patient’s sex, age, and cardiologist (if known). The dispatcher then called the emergency department attending and informed them that a STEMI was being transported and that CCL activation was needed. We used retrospective chart review of a consecutive sample of patients from an existing STEMI registry to determine whether there was a statistically significant difference in DTB between the groups. Results: Eight hundred fifty-six total STEMI alert patients arrived by EMS during the study. We excluded 730 notifications due to events such as cardiac arrest, arrhythmia, death, resolution of EKG changes and/or symptoms, cardiologist decision not to perform PCI, arrival as a transfer after prior stabilization at a referring facility or arriving by an EMS agency other than New Castle County EMS (NCC*EMS). Sixty-four (64) sequential patients from each group comprised the study sample. The average DTB (SD) for the standard communication method was 57.6 minutes (17.9), while that for dispatcher-aided communication was 46.1 minutes (12.8), (mean difference 57.6-46.1 minutes=11.5 minutes with a 95% CI [6.06,16.94]) p=0.0001. In the dispatcher-aided group, 92% of patients (59/64) met standards of ≤60 minute DTB time. Only 64% (41/64) met this goal in the standard communication group (p=0.0001). Conclusion: Brief, early notification of STEMI by paramedics through 9-1-1 dispatchers achieves earlier CCL activation in a hospital system already using EMS-directed CCL activation. This practice significantly decreased DTB and yielded a higher percentage of patients meeting the DTB≤60 minutes quality metric. [West J Emerg Med. 2015;16(3):472–480.