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usc Refereed/Peer-reviewed Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy). Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases. Results: Informative RNA assay data were obtained for 96% of cases, enabling variant reclassification for 75% variants that can be used for genetic counseling (71%), to inform clinical care (32%) and prenatal counseling (41%). Variant-associated mis-splicing was highly reproducible for 28 cases with samples from ≥2 affected individuals or heterozygotes and 10 cases with ≥2 biospecimens. PCR amplicons encompassing another segregated heterozygous variant was vital for clinical interpretation of 22 of 79 variants to phase RNA splicing events and discern complete from partial mis-splicing. Conclusion: RNA diagnostics enabled provision of a genetic diagnosis for 64% of recruited cases. PCR-based RNA diagnostics has capacity to analyze 81.3% of clinically significant genes, with long amplicons providing an advantage over RNA sequencing to phase RNA splicing events. The Australasian Consortium for RNA Diagnostics (SpliceACORD) provide clinically-endorsed, standardized protocols and recommendations for interpreting RNA assay data.

Ultrasonography is widely practiced in many disciplines. It is becoming increasingly important to design well-structured curricula to introduce imaging to students during medical school. This review aims to analyze the literature for evidence of how ultrasonography has been incorporated into anatomy education in medical school curricula worldwide. A literature search was conducted using multiple databases with the keywords: "Ultrasound OR Ultrasonographic examination*" and "Medical student* OR Undergraduate teaching* OR Medical education*" and "Anatomy* OR Living anatomy* OR Real-time anatomy.*" This review found that ultrasound curricula vary in stage of implementation, course length, number of sessions offered to students as well as staffing and additional course components. Most courses consisted of didactic lectures supplemented with demonstration sessions and/or hands-on ultrasound scanning sessions. The stage of course implementation tended to depend on the aim of the course; introductory courses were offered earlier in a student's career. Most courses improved student confidence and exam performance, and more junior students tended to benefit more from learning anatomy with ultrasound guidance rather than learning clinical examination skills. Students tended to prefer smaller groups when learning ultrasound to get more access to using the machines themselves. Ultrasonography is an important skill, which should be taught to medical students early in their careers as it facilitates anatomical education and is clinically relevant, though further objective research required to support the use of ultrasound education as a tool to improve clinical examination skills in medical students. Clin. Anat. 30:452-460, 2017. © 2017 Wiley Periodicals, Inc.

Surface anatomy is a core component of human anatomy in clinical practice. It allows clinicians to assess patients accurately and quickly; however, recent studies have revealed variability among individuals and ethnicities. The aim of this study is to investigate possible variations in adult thoracic and abdominal surface anatomy landmarks in an Iranian population. This study used 100 thoracoabdominal CT scans (mean age: 47 ± 17 years, age range: 20-77 years, 47% females), noted the most common locations of clinically relevant surface markings, and analyzed correlations between these variables and age or gender. While many common surface markings in Iranians were consistent with the evidence-based literature, there were some differences. In relation to the corresponding segments of the vertebral column, the superior vena cava formation and the lower border of the pleura adjacent to the vertebral column and right kidney tended to be at higher levels in adult Iranians than a Caucasian population. There were also discrepancies between the Iranian population and commonly-referenced medical textbooks and recent evidence-based literature concerning the vertebral levels of the diaphragmatic openings of the esophagus, aorta, and inferior vena cava. This study emphasizes the need to consider evidence-based reappraisals of surface anatomy to guide clinical practice. Much of our current knowledge of surface anatomy is based on older studies of cadavers rather than living people, and does not take ethnic and individual variations into consideration.

Objectives Pain is often overlooked in genetic muscle disease, despite there being large studies showing that pain may affect over two thirds of such patients, and is often manageable. We set out to discover how prevalent pain is in New Zealand patients with these conditions and how it affected their quality of life, participation in society and use of public health resources. Methods In 2015–2016, a national study called MD-Prev of the frequency and impact of genetically determined muscle disease, was undertaken in New Zealand. 964 patients were ascertained. All participants were offered a chance to answer questionnaires regarding their condition and its impact on their lives and functioning. Results Five-hundred and ninety eight of the 964 (62%) patients agreed to participate and were able to fill in the questionnaires. The most common conditions were myotonic dystrophy type 1, dystrophinopathies, facioscapulohumeral dystrophy (FSHD) and limb girdle muscular dystrophies (LGMD) affecting 35.6%, 19.5%, 12.8% and 9.6%, respectively. Pain was common in our patients affecting 61% overall. It was higher in LGMD (74.0%) and FSHD (69%) but somewhat lower in dystrophinopathies (62.5%) and myotonic dystrophy (58.7%). Pain scores (McGill Pain Questionnaire) were higher in FSHD and myotonic dystrophy than dystrophinopathies. Higher pain scores were associated with decreased QoL, decreased participation in society and greater use of the health system (p Conclusions Pain is a significant aspect of genetic muscle disease and treating it may lead to substantially better outcomes for patients.