scholarly journals Yield of Muscle Biopsy in Patients with Findings of Myopathy on Electrodiagnostic Testing

2019 ◽  
Vol 10 (03) ◽  
pp. 489-493 ◽  
Author(s):  
Sarah Hasan Siddiqui ◽  
Raheel Ahmed ◽  
Safia Awan ◽  
Ambreen Zain ◽  
Sara Khan
Keyword(s):  
Muscle Biopsy ◽  
Clinical Laboratory ◽  
Diagnostic Yield ◽  
Care Center ◽  
Tertiary Care ◽  
Neuromuscular Diseases ◽  
Genetic Tests ◽  
Factors Affecting ◽  
Electrodiagnostic Testing ◽  
Hereditary Myopathy

Abstract Background The evaluation of neuromuscular diseases includes detailed clinical assessment, blood testing, electrodiagnostic studies (EDS), biopsy, and genetic tests. EDS alone cannot provide a specific diagnosis. Further testing in the form of genetic tests or muscle biopsy (MB) is required. Objective The objective of the study is to evaluate the yield of MB in patients with findings of myopathy on electrodiagnostic testing and assess the factors affecting an abnormal biopsy outcome. Methods Electromyography (EMG)/nerve conduction studies (NCS) performed for suspected myopathy over 5 years from 2011 to 2016, at the neurophysiology department of a tertiary care center in Pakistan, were reviewed. Based on inclusion criteria, records of 58 patients were retrospectively reviewed. Results After an EMG/NCS diagnosis of myopathy, the frequency of MB testing was only 10.1%. The median age of patients was 26.5 years. The clinically suspected diagnosis was categorized into hereditary myopathy (n = 15, 25.9%) and acquired myopathy (n = 18, 31%). The positive predictive value of EMG is 77.2%. Twenty-eight (48.2%) patients had abnormal MB whereas 20 (34.4%) revealed normal findings. Factors significantly influencing an abnormal outcome of biopsy included moderate-to-severe elevation of creatine kinase (>2,000 U/L),presence of denervation changes, and severe myopathy on EMG. Conclusion Even though the overall yield of MB testing may not be very high in our setting due to the unavailability of special techniques and expertise, certain factors can help to improve the diagnostic yield. Clinicians should encourage MB testing, especially in cases with strong clinical, laboratory and electrodiagnostic suspicion, and absence of genetic testing for suspected myopathy.

scholarly journals Factors Affecting Radiation Dose in Computed Tomography Angiograms for Pulmonary Embolism: A Retrospective Cohort Study

2020 ◽  
Vol 10 ◽  
pp. 74
Author(s):  
Prashant Nagpal ◽  
Sarv Priya ◽  
Ali Eskandari ◽  
Aidan Mullan ◽  
Tanya Aggarwal ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Pulmonary Embolism ◽  
Radiation Dose ◽  
Care Center ◽  
Tertiary Care ◽  
Multivariate Logistic Regression Analysis ◽  
Factors Affecting ◽  
Model Based ◽  
Pulmonary Angiogram ◽  
The Mean

Objectives: Computed tomography pulmonary angiogram (CTPA) is one of the most commonly ordered and frequently overused tests. The purpose of this study was to evaluate the mean radiation dose to patients getting CTPA and to identify factors that are associated with higher dose. Material and Methods: This institutionally approved retrospective study included all patients who had a CTPA to rule out acute pulmonary embolism between 2016 and 2018 in a tertiary care center. Patient data (age, sex, body mass index [BMI], and patient location), CT scanner type, image reconstruction methodology, and radiation dose parameters (dose-length product [DLP]) were recorded. Effective dose estimates were obtained by multiplying DLP by conversion coefficient (0.014 mSv•mGy−1•cm−1). Multivariate logistic regression analysis was performed to determine the factors affecting the radiation dose. Results: There were 2342 patients (1099 men and 1243 women) with a mean age of 58.1 years (range 0.2–104.4 years) and BMI of 31.3 kg/m2 (range 12–91.5 kg/m2). The mean effective radiation dose was 5.512 mSv (median – 4.27 mSv; range 0.1–43.0 mSv). Patient factors, including BMI >25 kg/m2, male sex, age >18 years, and intensive care unit (ICU) location, were associated with significantly higher dose (P < 0.05). CT scanning using third generation dual-source scanner with model-based iterative reconstruction (IR) had significantly lower dose (mean: 4.90 mSv) versus single-source (64-slice) scanner with filtered back projection (mean: 9.29 mSv, P < 0.001). Conclusion: Patients with high BMI and ICU referrals are associated with high CT radiation dose. They are most likely to benefit by scanning on newer generation scanner using advance model-based IR techniques.

Clinical and Electroencephalographic Correlates in Pediatric Cardiac Arrest: Experience at a Tertiary Care Center

2018 ◽  
Vol 49 (05) ◽  
pp. 324-329 ◽  
Author(s):  
Jun Park ◽  
Garrett Brooks
Keyword(s):  
Cardiac Arrest ◽  
Clinical Laboratory ◽  
Cardiopulmonary Arrest ◽  
Pediatric Population ◽  
Care Center ◽  
Tertiary Care ◽  
Cerebral Performance Category ◽  
Neurologic Outcome ◽  
Background Suppression ◽  
Poor Outcome

AbstractPediatric cardiac arrest is a significant cause of death and neurologic disability; however, there is a paucity of literature specifically evaluating the utility of prognostic factors in the pediatric population. This retrospective chart review examines clinical, laboratory, and electroencephalographic (EEG) data in children following cardiopulmonary arrest to better characterize findings that may inform prognosis. Pre-arrest clinical characteristics, resuscitation details, and post-arrest hospital course variables were analyzed and neurologic outcome was determined using the Pediatric Cerebral Performance Category scale. Forty-one patients were identified who had cardiac arrest from March, 2011 to January, 2015. Duration of cardiopulmonary resuscitation (p = 0.013), out-of-hospital arrest (p = 0.005), arterial pH (0.014), arterial lactate (0.004), lack of pupil reactivity to light (p < 0.001), absent motor response to noxious stimuli (p < 0.001), and absent brainstem reflexes (p < 0.001) were all predictors of poor neurologic outcome. EEG background suppression (p = 0.005) was associated with poor outcome. Nine patients had electrographically recorded seizures, which began up to 1 week following cardiac arrest. Two patients (4.9%) experienced post-anoxic myoclonic status epilepticus and both had a poor outcome.

scholarly journals TRA 2. Factors Affecting Management and Limb Salvage in Upper Limb Vascular Trauma: A Prospective Study of 52 Cases in a Tertiary Care Center

2019 ◽  
Vol 70 (5) ◽  
pp. e167-e168
Author(s):  
Sandeep Muniswamy ◽  
Ajay Savlania ◽  
Abhinaya Reddy ◽  
Uttam K. Thakur ◽  
Lakshminarayanan Sadhasivan
Keyword(s):  
Prospective Study ◽  
Limb Salvage ◽  
Upper Limb ◽  
Care Center ◽  
Tertiary Care ◽  
Vascular Trauma ◽  
Tertiary Care Center ◽  
Factors Affecting ◽  
A Prospective Study

scholarly journals Duplicate Type and Screen Testing: Waste in the Clinical Laboratory

2017 ◽  
Vol 142 (3) ◽  
pp. 358-363
Author(s):  
Margaret L. Compton ◽  
Penny C. Szklarski ◽  
Garrett S. Booth
Keyword(s):  
Clinical Laboratory ◽  
Care Center ◽  
Tertiary Care ◽  
The United States ◽  
Transfusion Medicine ◽  
Laboratory Cost ◽  
System A ◽  
Medicine Service ◽  
Additional Education ◽  
Clinical Laboratory Testing

Context.— In the United States, approximately $65 billion dollars is spent per year on clinical laboratory testing, of which 20% to 30% of all testing is deemed inappropriate. There have been multiple studies in the field of transfusion medicine regarding evidence-based transfusion practices, but limited data exist regarding inappropriate pretransfusion testing and its financial and clinical implications. Objective.— To assess duplicative testing practices in the transfusion medicine service. Design.— A 24-month retrospective review was performed at a 1025-bed tertiary care center, identifying all duplicate type and screen (TS) tests performed within 72 hours of the previous TS. Duplicative testing was classified as appropriate or inappropriate by predetermined criteria. The level of underordering was analyzed through a query of the electronic event reporting system. A cost analysis was performed to determine the financial impact of inappropriate duplicative TS. Results.— The mean rate of inappropriate, duplicative TS orders was 4.13% (standard deviation ± 4.09%). Rates of inappropriate ordering ranged from 0.01% to 15.5% depending on the clinical service and did not correlate with volume of tests ordered. There were 8 reported cases of delayed blood delivery due to lack of a valid TS during the study period, demonstrating that underordering is also a harmful practice. The laboratory cost of inappropriate testing for the study period was $80,434, and phlebotomy costs were $45,469. Conclusions.— Our study demonstrates that inappropriate TS ordering is costly, both financially and clinically. By evaluating the percentage of inappropriate TS tests by clinical services, we have identified services that may benefit from additional education and technologic intervention.

scholarly journals Clinical exome sequencing reports: current informatics practice and future opportunities

2017 ◽  
Vol 24 (6) ◽  
pp. 1184-1191 ◽  
Author(s):  
Rajeswari Swaminathan ◽  
Yungui Huang ◽  
Caroline Astbury ◽  
Sara Fitzgerald-Butt ◽  
Katherine Miller ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Exome Sequencing ◽  
Genetic Information ◽  
Clinical Laboratory ◽  
Diagnostic Yield ◽  
Tertiary Care ◽  
Common Data Elements ◽  
Radiology Reports ◽  
Whole Exome ◽  
Patient Consent

Abstract The increased adoption of clinical whole exome sequencing (WES) has improved the diagnostic yield for patients with complex genetic conditions. However, the informatics practice for handling information contained in whole exome reports is still in its infancy, as evidenced by the lack of a common vocabulary within clinical sequencing reports generated across genetic laboratories. Genetic testing results are mostly transmitted using portable document format, which can make secondary analysis and data extraction challenging. This paper reviews a sample of clinical exome reports generated by Clinical Laboratory Improvement Amendments–certified genetic testing laboratories at tertiary-care facilities to assess and identify common data elements. Like structured radiology reports, which enable faster information retrieval and reuse, structuring genetic information within clinical WES reports would help facilitate integration of genetic information into electronic health records and enable retrospective research on the clinical utility of WES. We identify elements listed as mandatory according to practice guidelines but are currently missing from some of the clinical reports, which might help to organize the data when stored within structured databases. We also highlight elements, such as patient consent, that, although they do not appear within any of the current reports, may help in interpreting some of the information within the reports. Integrating genetic and clinical information would assist the adoption of personalized medicine for improved patient care and outcomes.

scholarly journals Utilization and Diagnostic Yield of Neurogenetic Testing at a Tertiary Care Facility

2007 ◽  
Vol 53 (6) ◽  
pp. 1016-1022 ◽  
Author(s):  
Kerstin L Edlefsen ◽  
Jonathan F Tait ◽  
Mark H Wener ◽  
Michael Astion
Keyword(s):  
Positive Result ◽  
Diagnostic Yield ◽  
Medical Center ◽  
Care Center ◽  
Academic Medical Center ◽  
Molecular Genetic ◽  
Tertiary Care ◽  
Care Facility ◽  
Utilization Review ◽  
Tertiary Care Facility

Abstract Background: Institutions face increasing charges related to molecular genetic testing for neurological diseases. The literature contains little information on the utilization and performance of these tests. Methods: A retrospective utilization review was performed to determine the diagnostic yield of neurogenetic tests ordered during calendar year 2005 at a large academic medical center in the western United States. Results: Overall, a relevant mutation was identified in 30.2% of the 162 patients tested and in 21.5% of the 121 probands, defined as patients for whom no mutation has been previously identified in a family member. Patients with muscle weakness (n = 65) had a mutation detected in 26.2% of all patients and 23.5% of probands (n = 51), with an estimated testing cost per positive result of $3190. Patients tested for neuropathy (n = 36) had a mutation detected in 27.8% of patients and 22.6% of probands (n = 31), with an estimated cost per positive result of $5955. Patients with chorea (n = 25) had a positive result obtained in 68% of patients and 71.4% of probands (n = 7); the estimated cost per positive test was $440. Other diagnostic categories evaluated include ataxias (n = 18; yield, 11.1%; $7620 per positive), familial stroke or dementia syndromes (n = 8; yield, 12.5%; $6760 per positive), and multisystem mitochondrial disorders (n = 10; yield, 20%; $6485 per positive). Conclusions: Expert clinicians at a tertiary care center who ordered neurogenetic tests obtained a positive result in 21.5% of patients without previously identified familial mutations. These results can be used for comparison and to help establish utilization guidelines for neurogenetic testing.

scholarly journals Cholelithiasis in Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia

2020 ◽  
Vol 2 (2) ◽  
pp. 37-43
Author(s):  
Banjar H ◽  
Al-Ghuneim L ◽  
Al-Shammari A ◽  
Al-Mulhim FA ◽  
Al-Eid M ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Laboratory ◽  
Care Center ◽  
Pancreatic Insufficiency ◽  
Tertiary Care ◽  
Age Groups ◽  
Retrospective Chart Review ◽  
Abdominal Ultrasound ◽  
Abdominal Sonography

Introduction: Cholelithiasis has been reported in 12%-24% of Cystic Fibrosis (CF) patients, and is usually made up of cholesterol gallstones. These abnormalities are frequently asymptomatic and can include intra and extrahepatic ducts, gallbladder thickening and contraction, micro gallbladders, and cholelithiasis. Abdominal sonography is routinely used in order to detect these abnormalities. Objectives: To obtain the prevalence of gall stones (Cholelithasis) in CF patients and its relation to other clinical, laboratory, radiological, and genetic data. Methodology: A retrospective chart review as part of the CF registry data from the period 1st January 1984 – 1st June 2018. All confirmed CF the patients of all age groups that have US studies done were included in the study. Patients with positive gallstones or sludge were evaluated and discussed. Results: A total of 391 confirmed CF patients were involved. Out of them, 252 patients had an abdominal ultrasound, 7 patients (3%) had gallstones on the abdominal US, 8 patients (3%) were revealed to have sludge and 237 patients (94%) had normal gallbladders. Pancreatitis was found in 4 patients (2%). 191 patients (76%) had pancreatic insufficiency.77 patients had follow up abdominal ultrasounds and 5 patients (7%) were found to have persistent gallstones, 4 patients (5%) had persistent sludge and 68 patients (88%) remained negative for gallstones. 2 patients required cholecystectomy. Conclusion: Cholelithiasis is a common complication of CF disease; its incidence is more than the general population. Thus, we recommend that every CF patient get an ultrasonography study as part of liver disease screening to rule out any Gallbladder pathology.

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