Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 15 de 15
Filter
1.
JEM Rep ; 3(1)2024 Mar.
Article in English | MEDLINE | ID: mdl-38435028

ABSTRACT

Background: There is conflicting data about sex-based differences in the treatment of acute pain in the ED. Little is known about sex-based disparities in analgesia in pediatric ED patients. Objectives: Our objective was to determine whether analgesic administration rates differ between female and male pediatric patients presenting to the ED with abdominal pain. Methods: We conducted a retrospective cohort study of ED patients 5-21 years old with abdominal pain between 6/1/19 and 6/30/21. The primary outcome was receipt of any analgesia, and secondary outcomes were receipt of opioid analgesia and time to receipt of analgesia. Multivariable regression models were fitted for each outcome. Results: We studied 1,087 patients; 681 (63%) were female with a median age of 17 years (IQR 13, 19) and 406 (37%) were male with a median age of 14 years (IQR 9, 18). 371 female patients (55%) and 180 male patients (44%) received any analgesia. 132 female patients (19%) and 83 male patients (20%) received opioid analgesia. In multivariate analyses, female patients were equally likely to receive any analgesia (OR 1.30, 95% CI 0.97 - 1.74, p = 0.07), but time to analgesia was 14% longer (GMR 1.14, 95% CI 1.00 - 1.29, p = 0.04). Non-White patients were 32% less likely to receive opioids (OR 0.68, 95% CI 0.47 - 0.97, p = 0.04). Conclusions: Female pediatric ED patients were equally likely to receive any analgesia as male patients, but their time to analgesia was longer. Non-White patients were less likely to receive opioid analgesia than White patients.

2.
Telemed Rep ; 3(1): 62-66, 2022.
Article in English | MEDLINE | ID: mdl-35720446

ABSTRACT

Over the past 2 years, telemedicine has skyrocketed as COVID-19 propelled innovation and implementation at unparalleled rates. Within the UC Davis academic health system, a new paradigm for telemedicine emerged: direct-to-consumer telemedicine. The video-based telemedicine program has become the largest of its kind in California and is staffed by 80 providers (MDs, APPs) across five clinical departments/groups (primary care practice group, family and community medicine department, emergency medicine department, the nursing department, and the physical medicine and rehabilitation department). September 2021 marked the 1-year anniversary of a journey that has opened access, improved coordination, and become a workforce engine for our evolving virtual health infrastructure.

3.
Am J Emerg Med ; 51: 192-196, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34763238

ABSTRACT

OBJECTIVES: There has been increased focus nationally on limiting opioid prescriptions. National data demonstrates a decrease in annual opioid prescriptions among emergency medicine physicians. We analyzed data from 2012 to 2020 from a large academic health system in California to understand trends in opioid prescribing patterns for emergency department (ED) discharged patients and assessed the potential impact of two initiatives at limiting local opioid prescriptions. METHODS: In 2012-2020, monthly ED visit data was used to evaluate the total number of outpatient opioid prescriptions and percent of ED visits with opioid prescriptions (as primary outcomes). Descriptive statistics, graphic representation, and segmented regression with interrupted times series were used based on two prespecified time points associated with intensive local initiatives directed at limiting opioid prescribing1) comprehensive emergency medicine resident education and 2) electronic health record (EHR)-based intervention. RESULTS: Between March 2012 and July 2020, a total of 41,491 ED discharged patients received an opioid prescription. The three most commonly prescribed drugs were hydrocodone (84.1%), oxycodone (10.8%), and codeine (2.8%). After implementing comprehensive emergency medicine resident education, the total number of opioid prescriptions, the percentage of opioid prescriptions over total ED visit numbers and the total tablet number showed decreasing trends (p's ≤ 0.01), in addition to the natural (pre-intervention) decreasing trends. In contrast, later interventions in the EHR tended to show attenuated decreasing trends. CONCLUSIONS: From 2012 to 2020, we found that total opioid prescriptions decreased significantly for discharged ED patients. This trend is seen nationally. However, our specific interventions further heightened this downward trend. Evidence-based legislation, policy changes, and educational initiatives that impact prescribing practices should guide future efforts.


Subject(s)
Analgesics, Opioid/therapeutic use , Electronic Health Records , Practice Patterns, Physicians'/statistics & numerical data , Practice Patterns, Physicians'/trends , Adult , California , Codeine/therapeutic use , Drug Prescriptions/standards , Drug Prescriptions/statistics & numerical data , Emergency Medicine/education , Emergency Service, Hospital/organization & administration , Emergency Service, Hospital/statistics & numerical data , Female , Humans , Hydrocodone/therapeutic use , Internship and Residency , Interrupted Time Series Analysis , Male , Middle Aged , Oxycodone/therapeutic use , Retrospective Studies
4.
Telemed Rep ; 2(1): 277-283, 2021.
Article in English | MEDLINE | ID: mdl-35720745

ABSTRACT

Background: The objective of this study is to evaluate a rapid assessment telemedicine system in the emergency department for safety, workflow disruption, and satisfaction level by clinicians, staff, and patients. Methods: After consent is obtained, the patient and telemedicine emergency physician are connected on a Health Insurance Portability and Accountability Act-compliant video conference for a rapid assessment, including history of present illness, review of systems, and past medical history. The telemedicine physician initiates orders based on these data. Patient data collected include age, gender, chief complaint, Emergency Severity Index, door to telemedicine physician time, door to in-person physician time, length of stay, left without being seen (LWBS) status, and satisfaction scores. Nurses were assessed for workflow interruptions and communication gaps. In-person physicians were assessed regarding perceived missed information in patient management, perceived workflow interruptions, and satisfaction. Results: Convenience sampling when participating physicians were on-shift resulted in 22 patients enrolled out of 25 approached over 2 months. No patients LWBS, and no in-person physicians perceived missed information in management. Satisfaction was well scored in all evaluated parties, with no score below a 4.77 out of 5 for any of the categories evaluated. Only one case interrupted the workflow of the on-site physician. Discussion: Telemedicine rapid assessment was found to be safe, efficient, and associated with high satisfaction. These results warrant study on a larger scale with a control group to statistically assess differences in outcome metrics such as LWBS rates. If effective, this approach could provide a novel and flexible physician-staffing tool.

5.
Emerg Med Int ; 2020: 8275386, 2020.
Article in English | MEDLINE | ID: mdl-32724677

ABSTRACT

BACKGROUND: Screening for unhealthy alcohol and drug use in the emergency department (ED) can be challenging due to crowding, lack of privacy, and overburdened staff. The objectives of this study were to determine the feasibility and utility of a brief tablet-based screening method in the ED and if patients would consider a face-to-face meeting with a certified alcohol and drug counselor (CADC) for more in-depth screening, brief intervention, and referral to treatment (SBIRT) helpful via this interface. METHODS: A tablet-based questionnaire was offered to 500 patients. Inclusion criteria were age ≥18, Emergency Severity Index 2-5, and English comprehension. Subjects were excluded if they had evidence of acute intoxication and/or received sedating medication. RESULTS: A total of 283 (57%) subjects were enrolled over a 4-week period, which represented an increase of 183% over the monthly average of patients referred for SBIRT by the CADC prior to the study. There were 131 (46%) who screened positive for unhealthy alcohol and drug use, with 51 (39%) and 37 (28%) who screened positive for solely unhealthy alcohol use and drug use/drug use disorders, respectively. There were 43 (33%) who screened positive for combined unhealthy alcohol and drug use. Despite willingness to participate in the tablet-based questionnaire, only 20 (15%) with a positive screen indicated via the tablet that a face-to-face meeting with the CADC for further SBIRT would be helpful. CONCLUSION: Brief tablet-based screening for unhealthy alcohol and drug use in the ED was an effective method to increase the number of adult patients identified than solely by their treating clinicians. However, only a minority of subjects screening positive using this interface believed a face-to-face meeting with the CADC for further SBIRT would be helpful.

6.
Clin Toxicol (Phila) ; 58(9): 861-869, 2020 09.
Article in English | MEDLINE | ID: mdl-32267189

ABSTRACT

Introduction: Cannabis use results in elevation of heart rate and blood pressure immediately after use, primarily due to sympathetic nervous system stimulation and parasympathetic nervous system inhibition. These effects may precipitate cardiac dysrhythmia. The objective of our study was to analyze systematically the pertinent medical literature regarding the putative association between cannabis use and cardiac dysrhythmia.Methods: We queried PubMed, Google Scholar, and OpenGrey, and reviewed results for relevance. We graded clinical trials, observational and retrospective studies, case series and reports using Oxford Centre for Evidence-Based Medicine guidelines.Results: The relevant publications identified included one Level I systematic review and meta-analysis of six human studies, 16 Level II studies with 6,942 subjects, nine Level III studies with 3,797,096 subjects and two systematic and scoping reviews with 30 cases. Cannabis-induced tachycardia was highlighted in 17 of 28 (61%) Level I-III articles followed by a generalized description of dysrhythmia in eight (29%). Specific dysrhythmias noted in the Level I-III articles included atrial fibrillation, atrial flutter, atrioventricular block, premature ventricular contractions, premature atrial contractions, ventricular tachycardia, and ventricular fibrillation. Other reported findings on electrocardiogram included ST segment elevation, P, and T wave changes. Only one Level III study reported a decreased risk of atrial fibrillation from cannabis use in patients hospitalized for heart failure (Odds ratio = 0.87). There were 39 case series (Level IV) and case reports (Level V) with 42 subjects. Average age was 30 ± 12 years, and only ten (24%) were female. The most common dysrhythmia mentioned in the Level IV and V articles was ventricular fibrillation (21%), followed by atrial fibrillation (19%), ventricular tachycardia (12%), third degree atrioventricular block (12%), and asystole (12%). There were four cases (10%) of symptomatic bradycardia. Notable electrocardiographic changes included ST segment elevation (29%), Brugada pattern in leads V1, V2 (14%), and right bundle branch block (12%). There were eight cases of cardiac arrest, of whom five expired.Conclusion: Cannabis use is associated with increased risk of cardiac dysrhythmia, which is rare but may be life-threatening. Clinicians and nurses should inquire about acute and chronic cannabis use in their patients presenting with tachycardia, bradycardia, dysrhythmia, chest pain, and/or unexplained syncope. Patients who use cannabis should be educated on this deleterious association, especially those with underlying cardiac disease or risk factors.


Subject(s)
Arrhythmias, Cardiac/etiology , Electrocardiography , Marijuana Use/adverse effects , Adolescent , Adult , Arrhythmias, Cardiac/physiopathology , Chest Pain/etiology , Female , Humans , Male , Risk Factors , Syncope/etiology , Young Adult
7.
Clin Toxicol (Phila) ; 57(10): 831-841, 2019 Oct.
Article in English | MEDLINE | ID: mdl-30964363

ABSTRACT

Introduction: Cannabis smoking can result in elevation of heart rate and blood pressure immediately after use, possibly from sympathetic nervous system stimulation and parasympathetic nervous system inhibition. Vascular inflammation, platelet activation, and carboxyhemoglobin generation have also been proposed as potential side effects of cannabis smoking. As such, an association between cannabis use and acute coronary syndrome has been postulated. Objective: The objective of our study was to analyze systematically the medical literature pertaining to this putative association. Methods: PubMed, Google Scholar, and OpenGrey were queried using a unique search string. All human trials, case series, or case reports of cannabis use and acute coronary syndrome in any language were considered in the literature search. The definition of acute coronary syndrome represented a penumbra that included chest pain, angina pectoris, unstable angina, myocardial infarction, myocardial ischemia, and cardiac arrest. Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines were followed. Our final search strategy included free-text words (TW): ("cannabis"[TW] OR "marijuana"[TW]) AND ("acute coronary syndrome"[TW] OR "myocardial" OR "ischemia"[TW] OR "infarction"[TW] OR "chest pain"[TW] OR "cardiac arrest"[TW] OR "angina"[TW]). To remain consistent over a span of five decades, we specifically did not include any publications with non-phytogenic, non-smoked cannabis as the sole etiology, as these are relatively recent and may possess additional pharmacologic characteristics compared to phytogenic cannabinoids. Therefore, for the purpose of this review, the term "cannabis" refers to the smoked phytogenic form. The search resulted in 325 articles. References in each selected publication were carefully hand-searched for any additional reports having relevance, and a total of 12 publications were identified in this manner. Following comparison and discussion amongst the co-authors, duplicate and non-relevant publications were removed, and a total of 85 publications involving 541,518 human subjects were selected for inclusion. Results were synthesized and reviewed by the authors for relevance. Clinical trials, observational studies, retrospective studies, case series, and case reports were graded using Oxford Centre for Evidence-based Medicine guidelines. Results: There were no Level I randomized blinded controlled studies specifically addressing the cannabis/acute coronary syndrome association. However, there were five Level I systematic reviews, 14 Level II studies with 83,961 subjects, and 14 Level III studies with 457,495 subjects. Conclusions from 28 of these 33 studies highlighted an increased risk of both acute coronary syndrome and chronic cardiovascular disease from cannabis use. The systematic reviews were wide-ranging in topic and scale, and none specifically focused on the association between cannabis use and acute coronary syndrome. The dissenting studies included two systematic reviews, one concluding there was limited and weak evidence for association of cardiovascular disease and acute coronary syndromes with cannabis use, and another citing the evidence was inconclusive. The other dissenting articles were two longitudinal prospective studies and a retrospective review concluding cannabis users had lower post-myocardial infarction mortality. There were 51 case series (Level IV) and case reports (Level V) with 62 subjects. Six cases were female (10%). Average age was 31 ± 12 years, reported maximum heart rate was 88 ± 21 bpm, systolic blood pressure was 125 ± 32 mmHg, and diastolic blood pressure was 80 ± 17 mmHg. ST-segment elevation was documented on 37 (60%) electrocardiograms, and the most common angiographic finding was left anterior descending coronary arterial occlusion and/or stenosis in 22 (35%) patients. Concomitant cardiomyopathy was described in 21 (34%) cases. There were 14 (23%) deaths attributed to acute coronary syndrome associated with cannabis use. Conclusion: There were five Level I systematic reviews, 14 Level II studies with 83,961 subjects, and 14 Level III studies with 457,495 subjects. All but five Level I-III publications highlighted an increased risk of both acute coronary syndrome and chronic cardiovascular disease associated with cannabis use.


Subject(s)
Acute Coronary Syndrome/chemically induced , Acute Coronary Syndrome/physiopathology , Cannabis/adverse effects , Marijuana Smoking/adverse effects , Acute Coronary Syndrome/diagnosis , Acute Coronary Syndrome/therapy , Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Prospective Studies , Retrospective Studies , Risk Assessment , Young Adult
8.
Ann Emerg Med ; 71(6): 798, 2018 06.
Article in English | MEDLINE | ID: mdl-29776505
9.
West J Emerg Med ; 19(2): 387-391, 2018 Mar.
Article in English | MEDLINE | ID: mdl-29560070

ABSTRACT

The opioid epidemic is the most significant modern-day, public health crisis. Physicians and lawmakers have developed methods and practices to curb opioid use. This article describes one method, prescription drug monitoring programs (PDMP), through the lens of how to optimize use for emergency departments (ED). EDs have rapidly become a central location to combat opioid abuse and drug diversion. PDMPs can provide emergency physicians with comprehensive prescribing information to improve clinical decisions around opioids. However, PDMPs vary tremendously in their accessibility and usability in the ED, which limits their effectiveness at the point of care. Problems are complicated by varying state-to-state requirements for data availability and accessibility. Several potential solutions to improving the utility of PDMPs in EDs include integrating PDMPs with electronic health records, implementing unsolicited reporting and prescription context, improving PDMP accessibility, data analytics, and expanding the scope of PDMPs. These improvements may help improve clinical decision-making for emergency physicians through better data, data presentation, and accessibility.


Subject(s)
Analgesics, Opioid/therapeutic use , Emergency Service, Hospital , Physicians/statistics & numerical data , Prescription Drug Misuse/prevention & control , Prescription Drug Monitoring Programs/statistics & numerical data , Electronic Health Records/statistics & numerical data , Humans , Opioid-Related Disorders/prevention & control
10.
Ann Emerg Med ; 70(3): 338-344.e3, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28238497

ABSTRACT

STUDY OBJECTIVE: We determine how often studies that evaluate the performance of an aid for decisionmaking, be it a simple laboratory or imaging test or a complex multielement decision instrument, compare the aid's performance to independent, unaided physician judgment. METHODS: This was a cross-sectional survey of all Original Research and Brief Research Report articles in Annals of Emergency Medicine from 1998 to 2015. We included all articles that evaluated the performance of an aid for decisionmaking in assisting a physician with a decision about testing, treatment, diagnosis, or disposition. Two authors independently characterized the intent and purpose of each aid for decisionmaking, determined whether each study had a comparison to unaided physician judgment within the article or in a separate article, and recorded the result of that comparison. RESULTS: One hundred seventy-one (8.3%) of 2,060 research articles studied the performance characteristics of an aid for decisionmaking, 48 of which were formal clinical decision instruments. Forty of the 171 studies retrospectively analyzed existing databases and therefore could not assess physician judgment. Investigators compared the aid for decisionmaking to physician judgment in 11% (15/131) of the prospective studies, including 15% (6/41) of studies that evaluated a formal clinical decision instrument. For 9 articles that had no comparison to physician judgment, we found 6 unique external publications that compared that aid to physician clinical judgment. The decision aid was superior to clinical judgment in 2 of the 21 studies that contained a comparison. CONCLUSION: Physician judgment is infrequently assessed when the performance of an aid for decisionmaking is evaluated, and, when reported, the decision aid seldom outperformed physician judgment.


Subject(s)
Clinical Decision-Making/methods , Emergency Medicine/methods , Physicians/psychology , Physicians/standards , Cross-Sectional Studies , Data Interpretation, Statistical , Humans , Judgment , Periodicals as Topic , Prospective Studies
11.
J Emerg Med ; 51(6): 628-635, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27720288

ABSTRACT

BACKGROUND: Renal colic results in > 1 million ED visits per year, yet there exists a gap in understanding how the majority of these visits, namely uncomplicated cases, are managed. OBJECTIVE: We assessed patient- and hospital-level variation for emergency department (ED) management of uncomplicated kidney stones. METHODS: We identified ED visits from non-elderly adults (aged 19-79 years) with a primary diagnosis indicating renal stone or colic from the 2011 Nationwide Emergency Department Sample. Patients with additional diagnostic codes indicating infection, sepsis, and abdominal aortic aneurysm were excluded. We used sample-weighted logistic regression to determine the association between hospital admission and having a urologic procedure with patient and hospital characteristics. RESULTS: Of the 1,061,462 ED visits for uncomplicated kidney stones in 2011, 8.0% of visits resulted in admission and 6.3% resulted in an inpatient urologic procedure. Uninsured patients compared to Medicaid insured patients were less likely to be admitted or have an inpatient urologic procedure (odds ratio [OR] = 0.72; 95% confidence interval [CI] 0.65-0.81 and OR = 0.80; 95% CI 0.72-0.87, respectively). Private- and Medicare-insured patients compared to Medicaid-insured patients were more likely to have an inpatient urologic procedure (OR = 1.20; 95% CI 1.11-1.30 and OR = 1.14; 95% CI 1.04-1.25, respectively). CONCLUSIONS: For patients with uncomplicated renal colic, there is variation in the management associated with nonclinical factors, namely insurance. No consensus guidelines exist yet to address when to admit or utilize inpatient urologic procedures.


Subject(s)
Emergency Service, Hospital , Hospitalization/statistics & numerical data , Insurance, Health/statistics & numerical data , Kidney Calculi/therapy , Renal Colic/therapy , Urologic Surgical Procedures/statistics & numerical data , Adult , Aged , Emergency Service, Hospital/economics , Female , Hospital Charges/statistics & numerical data , Hospitalization/economics , Humans , Kidney Calculi/complications , Kidney Calculi/economics , Male , Medicaid/statistics & numerical data , Medically Uninsured/statistics & numerical data , Medicare/statistics & numerical data , Middle Aged , Renal Colic/economics , Renal Colic/etiology , United States , Urologic Surgical Procedures/economics , Young Adult
12.
Pediatr Emerg Care ; 31(9): 645-7, 2015 Sep.
Article in English | MEDLINE | ID: mdl-25526022

ABSTRACT

OBJECTIVES: The purpose of this study was to determine the normal values of oxygen saturation in a healthy school-aged pediatric population. METHODS: This study enrolled students in grades K-8 at an elementary and middle school in Los Angeles. Although all students were invited to participate, only pulse oximetry results among healthy students were included. Healthy students were defined as not having asthma, bronchitis, a recent cold or pneumonia within the past week, any chronic lung disease, or any heart condition. RESULTS: Two hundred forty-eight students participated in the study, and 246 students met the inclusion criteria. Pulse oxygen saturation values ranged from 97% to 100% with a mean of 98.7% (95% confidence interval [CI], 98.6%-99.8%) and median of 99%. The distribution of measured pulse oximetry values were 97%: 16 (95% CI, 6.5%), 98%: 45 (95% CI, 18.3%), 99%: 184 (95% CI, 74.8%), and 100%: 1 (95% CI, 0.4%). CONCLUSIONS: Although the conventional wisdom is that pulse oximetry values 95% or greater are normal, these data suggest that the normal oxygen saturation range should be between 97% and 100%. Values of 95% and 96% should increase clinical suspicion of underlying disease.


Subject(s)
Oximetry/methods , Oximetry/statistics & numerical data , Oxygen/analysis , Adolescent , Child , Child, Preschool , Female , Humans , Male , Oximetry/trends , Population , Prospective Studies , Reference Values
13.
J Emerg Med ; 45(4): 585-7, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23623148

ABSTRACT

BACKGROUND: Wounds, particularly chronic wounds, are a common presentation to the Emergency Department (ED), and in severe cases can contain maggots. Maggot debridement therapy is a popular technique for wound debridement, but is limited to the use of sterilized larvae due to concerns of contamination and invasion of "wild" maggots into healthy tissue. Wild maggots in chronic wounds, therefore, should be removed, yet there is no reported literature that describes a technique for their removal. OBJECTIVE: This article presents a step-by-step approach for the safe removal of "wild" larvae in a wound using Yankauer suction. CASE REPORT: We present a case of a homeless man presenting to the ED with a foot wound found to have "wild" maggots that required removal. CONCLUSION: The technique described in this article is a simple, safe, and efficient way for the Emergency Physician to remove "wild" larvae from wounds.


Subject(s)
Foot Injuries/therapy , Myiasis/therapy , Anti-Bacterial Agents/therapeutic use , Chronic Disease , Foot Injuries/complications , Humans , Male , Middle Aged , Myiasis/complications , Suction
14.
West J Emerg Med ; 13(5): 416-21, 2012 Nov.
Article in English | MEDLINE | ID: mdl-23359650

ABSTRACT

INTRODUCTION: Drug-seeking behavior (DSB) in the emergency department (ED) is a very common problem, yet there has been little quantitative study to date of such behavior. The goal of this study was to assess the frequency with which drug seeking patients in the ED use classic drug seeking behaviors to obtain prescription medication. METHODS: We performed a retrospective chart review on patients in an ED case management program for DSB. We reviewed all visits by patients in the program that occurred during a 1-year period, and recorded the frequency of the following behaviors: complaining of headache, complaining of back pain, complaining of dental pain, requesting medication by name, requesting a refill of medication, reporting medications as having been lost or stolen, reporting 10/10 pain, reporting greater than 10/10 pain, reporting being out of medication, and requesting medication parenterally. These behaviors were chosen because they are described as "classic" for DSB in the existing literature. RESULTS: We studied 178 patients from the case management program, who made 2,486 visits in 1 year. The frequency of each behavior was: headache 21.7%, back pain 20.8%, dental pain 1.8%, medication by name 15.2%, requesting refill 7.0%, lost or stolen medication 0.6%, pain 10/10 29.1%, pain greater than 10/10 1.8%, out of medication 9.5%, and requesting parenteral medication 4.3%. Patients averaged 1.1 behaviors per visit. CONCLUSION: Drug-seeking patients appear to exhibit "classically" described drug-seeking behaviors with only low to moderate frequency. Reliance on historical features may be inadequate when trying to assess whether or not a patient is drug-seeking.

15.
Ann Neurol ; 60(3): 374-80, 2006 Sep.
Article in English | MEDLINE | ID: mdl-16983677

ABSTRACT

OBJECTIVE: Mutations in the Progranulin gene (PGRN) recently have been discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without identified MAPT mutations. The range of mutations of PGRN that can result in the FTD phenotype and the clinical presentation of patients with PGRN mutations have yet to be determined. METHODS: In this study, we examined 84 FTD patients from families not known previously to have illness linked to chromosome 17 for identified PGRN and MAPT mutations and sequenced the coding exons and the flanking intronic regions of PGRN. We compared the prevalence, clinical characteristics, magnetic resonance imaging and 18-fluoro-deoxyglucose positron emission tomography results, and neuropsychological testing of patients with the PGRN R493X mutation with those patients without identified PGRN mutations. RESULTS: We discovered a new PGRN mutation (R493X) resulting in a stop codon in two patients. This was the only PGRN mutation identified in our sample. The patients with the PGRN R493X mutation had a rapid illness course and had predominant right-sided atrophy and hypometabolism on magnetic resonance imaging and 18-fluoro-deoxyglucose positron emission tomography. The affected father of one of the patients with the PGRN R493X mutation showed frontal and temporal atrophy without neurofibrillary tangles on neuropathological examination. INTERPRETATION: Known PGRN and MAPT mutations were rare and of similar prevalence in our sample (2 compared with 1/84). The patients with the PGRN R493X mutation had a clinical presentation comparable with other behavior-predominant FTD patients. The neuropathology of an affected family member of a patient with the PGRN R493X mutation appears not to be Alzheimer's disease.


Subject(s)
Chromosomes, Human, Pair 17 , Dementia/genetics , Genetic Predisposition to Disease , Intercellular Signaling Peptides and Proteins/genetics , Mutation , Adolescent , Adult , Age of Onset , Aged , Aged, 80 and over , Arginine/genetics , DNA Mutational Analysis , Dementia/diagnostic imaging , Dementia/physiopathology , Deoxyglucose/metabolism , Female , Gene Frequency , Humans , Male , Microtubule-Associated Proteins/genetics , Middle Aged , Neuropsychological Tests , Positron-Emission Tomography/methods , tau Proteins/genetics
SELECTION OF CITATIONS
SEARCH DETAIL
...