INTRODUCTION: The Ultrasound Screening Exam for Underlying Lesions (USEFUL) was developed in an attempt to establish a role for bedside ultrasound in the primary and preventive care setting. It is the purpose of our pilot study to determine if students were first capable of performing all of the various scans required of our USEFUL while defining such an ultrasound-assisted physical exam that would supplement the standard hands-on physical exam in the same head-to-toe structure. We also aimed to assess the time needed for an adequate exam and analyze if times improved with repetition and previous ultrasound training. METHODS: Medical students with ranging levels of ultrasound training received a 25-minute presentation on our USEFUL followed by a 30-minute hands-on session. Following the hands-on session, the students were asked to perform a timed USEFUL on 2-3 standardized subjects. All images were documented as normal or abnormal with the understanding that an official detailed exam would be performed if an abnormality were to be found. All images were read and deemed adequate by board eligible emergency medicine ultrasound fellows. RESULTS: Twenty-six exams were performed by 9 students. The average time spent by all students per USEFUL was 11 minutes and 19 seconds. Students who had received the University of California, Irvine School of Medicines integrated ultrasound curriculum performed the USEFUL significantly faster (p< 0.0025). The time it took to complete the USEFUL ranged from 6 minutes and 32 seconds to 17 minutes, and improvement was seen with each USEFUL performed. The average time to complete the USEFUL on the first standardized patient was 13 minutes and 20 seconds, while 11 minutes and 2 seconds, and 9 minutes and 20 seconds were spent performing the exam on the second and third patient, respectively. CONCLUSION: Students were able to effectively complete all scans required by the USEFUL in a timely manner. Students who have been a part of the integrated ultrasound in medicine curriculum performed the USEFUL significantly faster than students who had not. Students were able to significantly improve upon the time it took them to complete the USEFUL with successive attempts. Future endpoints are aimed at assessing the feasibility and outcomes of an ultrasound-assisted physical exam in a primary care setting and the exams effect on doctor-patient satisfaction. [West J Emerg Med. 2014;15(3):260-266.].

Introduction: The Ultrasound Screening Exam for Underlying Lesions (USEFUL) was developed in an attempt to establish a role for bedside ultrasound in the primary and preventive care setting. It is the purpose of our pilot study to determine if students were first capable of performing all of the various scans required of our USEFUL while defining such an ultrasound-assisted physical exam that would supplement the standard hands-on physical exam in the same head-to-toe structure. We also aimed to assess the time needed for an adequate exam and analyze if times improved with repetition and previous ultrasound training.Methods: Medical students with ranging levels of ultrasound training received a 25-minute presentation on our USEFUL followed by a 30-minute hands-on session. Following the hands-on session, the students were asked to perform a timed USEFUL on 2-3 standardized subjects. All images were documented as normal or abnormal with the understanding that an official detailed exam would be performed if an abnormality were to be found. All images were read and deemed adequate by board eligible emergency medicine ultrasound fellows.Results: Twenty-six exams were performed by nine students. The average time spent by all students per USEFUL was 11 minutes and 19 seconds. Students who had received the University of California, Irvine School of Medicine’s integrated ultrasound curriculum performed the USEFUL significantly faster (p < 0.0025). The time it took to complete the USEFUL ranged from 6 minutes and 32 seconds to 17 minutes, and improvement was seen with each USEFUL performed. The average time to complete the USEFUL on the first standardized patient was 13 minutes and 20 seconds, while 11 minutes and 2 seconds, and 9 minutes and 20 seconds were spent performing the exam on the second and third patient, respectively.Conclusion: Students were able to effectively complete all scans required by the USEFUL in a timely manner. Students who have been a part of the integrated ultrasound in medicine curriculum performed the USEFUL significantly faster than students who had not. Students were able to significantly improve upon the time it took them to complete the USEFUL with successive attempts. Future endpoints are aimed at assessing the feasibility and outcomes of an ultrasound-assisted physical exam in a primary care setting and the exam’s effect on doctor-patient satisfaction. [West J Emerg Med.2014;15(3):260–266.]

Objective

Barth syndrome is an X-linked recessive disorder characterized by dilated cardiomyopathy, neutropenia, 3-methylglutaconic aciduria, abnormal mitochondria, variably expressed skeletal myopathy, and growth delay. The disorder is caused by mutations in the tafazzin (TAZ/G4.5) gene located on Xq28. We report a novel exonic splicing mutation in the TAZ gene in a patient with atypical Barth syndrome.

Patient & methods

The 4-month-old proband presented with respiratory distress, neutropenia, and dilated cardiomyopathy with reduced ejection fraction of 10%. No 3-methylglutaconic aciduria was detected on repeated urine organic acid analyses. Family history indicated that his maternal uncle died of endocardial fibroelastosis and dilated cardiomyopathy at 26 months. TAZ DNA sequencing, mRNA analysis, and cardiolipin analysis were performed.

Results

A novel nucleotide substitution c.553A>G in exon 7 of the TAZ gene was identified in the proband, predicting an amino acid substitution p.Met185Val. However, this mutation created a new splice donor signal within exon 7 causing mis-splicing of the message, producing two messages that only differ in the presence/absence of exon 5; these retain intron 6 and have only 11 bases of exon 7. Cardiolipin analysis confirmed the loss of tafazzin activity. The proband's mother, maternal aunt, and grandmother carry the same mutation.

Conclusions

The identification of a TAZ gene mutation, mRNA analysis, and monolysocardiolipin/cardiolipin ratio determination were important for the diagnosis and genetic counseling in this family with atypical Barth syndrome that was not found to be associated with 3-methylglutaconic aciduria.