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Fabry disease (FD) is an X-linked lysosomal storage disorder with multi-system involvement including cerebrovascular disease. Patients with FD also have a high risk of ischaemic stroke and TIA. White matter hyperintensities are common, but their clinical impact on cognition remains uncertain. Previous studies have examined the neuropsychological profile of FD, but have been inconclusive in part due to methodological limitations including small sample sizes. We sought to address these limitations in a case-control study of 26 patients with Fabry disease with mild to moderate disease symptoms matched with 18 healthy controls for age and premorbid intellectual level. We obtained detailed neuropsychological data and MRI neuroimaging data on the severity of white matter changes. Mood was accounted for as a possible confounder. Our results showed significant compromise of executive functions and information processing speed for the FD group. Error analyses suggested that the compromise of executive functions could not be entirely accounted for by slowed information processing speed. We demonstrated significant correlations between cognitive decline and the overall volume of white matter hyperintensities in the FD group. Our results point to significant compromise of cognition in FD even without stroke or mood difficulties. This suggests that neuropsychological assessment and rehabilitation should be routinely offered to patients with FD.

The clinical use of ultrasound has dramatically increased, necessitating early ultrasound education and the development of new tools in ultrasound training and assessment. The goal of this study was to devise a novel low-resource examination that tested the anatomical knowledge and technical skill of early undergraduate medical students in a gross anatomy course. The team-based ultrasound objective structured practice examination (OSPE) was created as a method for assessing practical ultrasound competencies, anatomical knowledge, and non-technical skills such as teamwork and professionalism. The examination utilized a rotation of students through four team roles as they scanned different areas of the body. This station-based examination required four models and four instructors, and tested ultrasound skills in the heart, abdominal vessels, abdominal organs, and neck regions. A Likert scale survey assessed student attitudes toward the examination. Survey data from participants (n = 46) were examined along with OSPE examination grades (n = 52). Mean and standard deviations were calculated for examination items and survey responses. Student grades were high in both technical (96.5%). and professional (96.5%) competencies with structure identification scoring the lowest (93.8%). There were no statistical differences between performances in each of the body regions being scanned. The survey showed that students deemed the examination to be fair and effective. In addition, students agreed that the examination motivated them to practice ultrasound. The team-based OSPE was found to be an efficient and student-favored method for evaluating integrated ultrasound competencies, anatomical knowledge, team-work, and professional attributes.

RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous RPL13 c.477+1G>A (IVS4+1G>A) pathogenic variant. This is the first identified case of an individual with an RPL13-related skeletal dysplasia, normal height, and radiographs consistent with a form of MED and Legg-Calve-Perthes-like disease. This case expands the phenotype of RPL13-related disorders.

Background The iliopsoas is a common source of anterior hip pain. Refractory cases may require surgical intervention, with reported complication rates ranging from 3% to 50%. Development of a minimally invasive, outpatient method of iliopsoas tendon release is desirable and may reduce costs, lower complications, and improve recovery time. Objective To describe and evaluate the safety and reproducibility of an ultrasound-guided (USG) iliopsoas tendon release using a spinal needle in a cadaveric model. Design Prospective, cadaveric laboratory investigation. Setting Academic Institution Procedural Skills Laboratory. Participants Five unembalmed cadaveric specimens (three female, two male), 69 to 93 years of age (mean 83.2 years), with a mean body mass index (BMI) of 24.5 kg/m2 (range 19.2 to 30.3 kg/m2 ). Interventions Two operators each performed five USG iliopsoas tendon releases. Three additional investigators dissected the pelves to assess completeness of tendon release and damage to adjacent structures. Main outcome measures Successful transection, completeness (%) of the tendon transection, damage to adjacent structures, and procedural time. Results Nine of 10 releases achieved the target release of ≥75% tendon transection. One procedure achieved 50% tendon release. No injury to adjacent structures was identified. The mean duration of the procedure was 6.19 minutes. Conclusions USG iliopsoas tendon release can be performed in a cadaveric model, consistently achieve the desired percentage of tendon release, does not result in injury to adjacent neurovascular structures, and takes approximately 6 minutes to perform. Although results cannot be generalized to a clinical setting, due to the minimally invasive nature of the procedure, it is likely that this procedure can be performed safely in an outpatient setting under local anesthesia, will cost less, and will facilitate a more rapid recovery when compared to standard surgical procedures. Further research is warranted for clinical application.

Advanced postgraduate medical education for health-care professionals is constantly evolving. Understanding facial anatomy and especially its vascular system is crucial when performing soft tissue filler injections to avoid adverse events including tissue loss or irreversible blindness. Standard anatomical resources often fall short of elucidating clinically relevant concepts in more highly specialized areas of interest. A novel dissection approach for demonstrating the anatomy of the lateral orbit was presented at scientific meetings to participants from dermatology, plastic surgery, and general practice. Results from the post-course online survey (n = 52) were analyzed. The results of the survey reveal a high educational impact and a high clinical relevance of the novel dissection approach. In addition, the majority of respondents (97.7%; n = 51) felt that the exposed anatomical structure of the orbit and face improved their ability to safely perform cosmetic procedures on the face. More experienced respondents who had previously attended at least five cadaveric dissections were more likely to strongly agree that reviewing anatomy through this novel dissection approach increased their confidence in avoiding periorbital vascular danger zones. As minimally invasive outpatient procedures continue to evolve, practicing physicians and mid-level providers often face the challenge of having to reconcile preexisting anatomical knowledge with new clinical practice. Skills required to navigate high impact anatomy include visualization of structures that form the navigational landscape and avoidance of key danger zones. The novel dissection approach to the lateral orbit reflects the increasing focus on revisiting, reforming, and redesigning anatomy for continuing professional development activities.

Accumulating evidence suggests that lifetime trauma exposure is associated with adulthood cognitive functioning. However, the nature and extent of this relation have yet to be fully explored. We used multilevel modeling to examine trauma exposure and age at first trauma exposure as predictors of the level of and change in cognitive functioning over a 9-year period. Data were from the Midlife in the United States study, a national survey that began in 1995. Data regarding trauma exposure and age at first exposure were obtained from the 2004 wave, whereas cognitive data were obtained from the 2004 and 2013 waves. The analyses were conducted using data from the 2,471 participants (age range: 28-84 years) who had complete data on all variables from the 2004 wave. Lifetime trauma exposure predicted change in executive functioning (EF), B = -0.03, SE = 0.01, p = .015, 95% CI [-0.05, -0.01]; and episodic memory, B = -0.05, SE = 0.02, p = .023, 95% CI [-0.10, -0.01], such that individuals with more trauma exposure had more decline over 9 years. Age at first exposure also predicted change in EF, B = -0.002, SE = 0.00, p = .009, 95% CI [-0.004, -0.001], such that individuals who were first exposed to trauma later in life had greater EF decline than individuals whose first traumatic event occurred earlier in life. Delta pseudo- R 2 values were moderate, ΔpseudoR2 = .17-.39. These findings identify trauma exposure as a risk factor for cognitive decline in adulthood and highlight the elevated risk associated with adulthood trauma exposure.

Hands-on dissection-based learning of anatomy offers an unique and valued experience for medical students. Too often however, the inexperienced student's focus is to avoid damage to unfamiliar structures instead of understanding spatial relationships between structures. This results in unfortunate surrender of a critical learning experience. Additionally, approaches to dissection and anatomic exposure share little alignment to clinical approaches, making it less powerful in clinical applicability. The goal of this viewpoint commentary is based on the experience of the two authors and aims to demonstrate opportunity to introduce clinical approaches for dissection while incorporating relevant anatomical concepts in medical school curriculum that aligns with authentic healthcare practice. Using the dissections of the superficial face as a relevant and current topic of clinical interest, we point out that applying the currently performed dissection approach (medial-to-lateral) falls short of providing sufficient knowledge and understanding of the layered arrangement of facial structures. The lateral-to-medial approach, as performed in surgical face lifting procedures would offer a better understanding of the layers of the face and especially the superficial musculoaponeurotic system (SMAS) accounting for the difficulties of facial dissections on embalmed cadavers. This commentary could offer a potential change in paradigm for students and course facilitators for how to maximize the knowledge transfer during facial dissections. It potentially opens a door to rethink dissection-based learning of anatomy toward techniques and approaches that are aligned to surgical access pathways and thus considered more clinically relevant.

ZIEL: In den letzten zehn Jahren hat sich unser Verstandnis der Gesichtsanatomie gewandelt. Neuere minimalinvasive Eingriffe zur Gesichtsverjungung erfordern bessere anatomische Kenntnisse. Material und methoden In dieser narrativen Ubersichtsarbeit wird die aktuelle Literatur mit den Erfahrungen der Autoren zusammengefasst und analysiert. Sie resumiert den aktuellen Wissenstand zu oberflachlichen und tiefen fazialen Fettkompartimenten und deren Bedeutung fur minimalinvasive Eingriffe am Gesicht. Ein schematisches Modell zum besseren Verstandnis der komplexen Anatomie des Gesichts wurde erstellt. Ergebnisse Das Gesicht ist aus den folgenden funf Schichten aufgebaut: Schicht 1: Haut; Schicht 2: subkutanes Fettgewebe mit Retinacula cutis (aus fibrosem Bindegewebe), Schicht 3: superfizielles muskuloaponeurotisches System (SMAS), Schicht 4: tiefes Fettgewebe und Schicht 5: Periost oder tiefe Faszie. Dieser Aufbau unterscheidet sich je nach Region, insbesondere, wenn die Ligamente in das Modell einbezogen werden. Die fazialen Fettkompartimente sind in den Schichten 2 und 4 lokalisiert. Jede Schicht hat einzigartige Merkmale und spezielle raumliche Beziehungen zu den umgebenden Geweben. Schlussfolgerungen Das neue Konzept des geschichteten Aufbaus erklart die raumlichen Beziehungen und das funktionale Zusammenwirken der Weichteilgewebe im Gesicht. Die Kenntnis der Schichten sowie der genauen Lage der oberflachlichen und tiefen Fettkompartimente des Gesichts und ihrer Begrenzungen ist entscheidend fur die sichere und effektive Durchfuhrung minimalinvasiver Eingriffe am Gesicht.

Objective There has been a significant shift in the understanding of facial anatomy during the last decade. Newer minimally invasive therapeutic options for facial rejuvenation procedures are increasing the need for a better knowledge of anatomy. Material and methods The current literature is summarized, analyzed and presented along with the experience of the author for this narrative review, which summarizes the current understanding of the superficial and deep facial fat compartments and their relevance for minimally invasive facial procedures. A schematic facial model was created in order to facilitate a better understanding of the complexity of facial anatomy. Results The face is arranged in five layers as follows: layer 1: skin; layer 2: subcutaneous fat including the retinacula cutis (composed of fibrous connective tissue); layer 3: superficial musculo-aponeurotic system (SMAS); layer 4: deep fat; and layer 5: periosteum or deep fascia. This arrangement varies between facial regions, especially when the line of ligaments is incorporated into the model. The facial fat compartments are located in layers 2 and 4; each layer has unique characteristics and spatial relationships with the surrounding tissues. Conclusions The concept of the layered arrangement is a new way to understand the spatial relationship and functional interplay of the soft tissues of the face. Understanding the layers, the precise location of the superficial and deep facial fat compartments and their boundaries is crucial for the conduct of safe and effective minimally invasive facial procedures.

Restoration of shoulder lateral rotation remains a significant challenge following brachial plexus injury. Transfer of the accessory nerve to suprascapular nerve (SSN) has been widely performed, although with generally poor outcomes for lateral rotation. A recent report suggested a selective infraspinatus reinnervation technique using a radial nerve branch for SSN transfer. This cadaveric study was performed in 7 specimens (14 shoulders). We present technical modifications to achieve additional length to the recipient nerve (suprascapular) that would facilitate direct repair. Key elements of the technique are (1) isolation of the SSN immediately distal to its motor branch to supraspinatus near the superior transverse scapular ligament; and (2) delivery of the transected SSN through the spinoglenoid notch and deep to the infraspinatus for emergence in the infraspinatus-teres minor interval. Nerve overlap of at least 21 mm was observed in all 14 dissected shoulders between the harvested SSN and radial nerve branches. The mean nerve overlap between harvested branches was 26 mm (range 21-32 mm). The mean harvested SSN length was 59 mm (range 46-80 mm). The mean length of the harvested radial nerve branch was 72 mm (range 65-85 mm). No measurements were significantly different between left and right shoulders or between males and females (smallest P value = 0.1249). Nerve diameter of the two harvested branches was judged to be appropriately compatible for surgical coaptation in all 14 dissected shoulders. We present a variation on a described technique to increase recipient suprascapular nerve length. Additional length of the recipient nerve is achieved through utilization of a more proximal dissection of the suprascapular nerve near the level of the superior transverse scapular ligament and delivering the nerve through the teres minor-infraspinatus interval. These surgical modifications are of clinical interest when selective reinnervation of the infraspinatus muscle is considered. We believe such a targeted approach can potentially increase shoulder lateral rotation function. Clin. Anat. 32:131-136, 2019. © 2018 Wiley Periodicals, Inc.

Reliable detection and identification of plant pathogens are essential for disease control strategies. Diagnostic methods commonly used to detect plant pathogens have limitations such as requirement of prior knowledge of the genome sequence, low sensitivity and a restricted ability to detect several pathogens simultaneously. The development of advanced DNA sequencing technologies has enabled determination of total nucleic acid content in biological samples. The possibility of using the single‐molecule sequencing platform of Oxford Nanopore as a general method for diagnosis of plant diseases was examined. It was tested by sequencing DNA or RNA isolated from tissues with symptoms from plants of several families inoculated with known pathogens (e.g. bacteria, viruses, fungi, phytoplasma). Additionally, samples of groups of 200 seeds containing one infected seed of each of two or three pathogens, as well as samples with symptoms but unidentified pathogens were tested. Sequencing results were analysed with Nanopore data analysis tools. In all the inoculated plants, pathogens were identified in real time within 1–2 h of running the Nanopore sequencer and were classified to the species or genus level. DNA sequencing or direct RNA sequencing of samples with unidentified disease agents were validated by conventional diagnostic procedures (e.g. PCR, ELISA, Koch test), which supported the results obtained by Nanopore sequencing. The advantages of this technology include: long read lengths, fast run times, portability, low cost and the possibility of use in every laboratory. This study indicates that adoption of the Nanopore platform will be greatly advantageous for routine laboratory diagnosis.

Millennial students born between 1980 and 1999 are currently the most prevalent generation in medical schools. Understanding this generation of inspiring yet challenging learners is key to satisfying instructional interaction. Effective strategies for teaching millennial learners can be summarized with 5 R's: ensuring a relaxed learning environment, building rapport with learners, highlighting the relevance and rationale of learning objectives and assessments, and implementing research-based educational methods. These strategies are exemplified by anatomists who relate (through platforms that encourage team-based learning in a relaxed environment), resonate (by highlighting the relevance and rationale of basic science learning objectives and feedback strategies), and innovate (by adopting cutting edge, research-proven technologies) within their curricula. Anatomists lead the way in effectively engaging, teaching and evaluating Millennial medical students in the 21st century. Broad application of these principles by other medical educators can further enhance Millennial education. Clin. Anat., 2018. © 2018 Wiley Periodicals, Inc.

Background Ultrasound is rarely used for guiding lumbosacral epidural steroid injections due to its technical limitations. For example, sonographic imaging lacks the ability to confirm epidural spread and identify vascular uptake. The perceived risk that these limitations pose to human subjects has precluded any large scale clinical trials to date. Objective To compare the accuracy of ultrasound versus fluoroscopic guidance for first sacral transforaminal epidural injections. Design Cadaveric comparative study using dichotomous outcomes. Setting A fluoroscopy suite and anatomic laboratory at an academic medical center. Subjects Four unembalmed adult human cadavers with no history of spinal surgery. Methods Eight sites were injected twice by one interventionalist, using fluoroscopic and ultrasound guidance. In the fluoroscopy arm, contrast spread was assessed using computed tomography. In the ultrasound arm, latex spread was assessed using gross anatomic dissection. Any visible evidence of epidural spread constituted a positive result. Main Outcome Measurements Comparison of the success of obtaining epidural contrast flow was the primary outcome measure. Secondary outcome measures included average duration, rate of intravascular uptake, and quantity of intravascular uptake. Results All injections performed in both the ultrasound arm and the fluoroscopy arm had positive epidural spread. The average duration was 3.03 minutes with fluoroscopy and 4.76 minutes with ultrasound. The rate of intravascular uptake was 37.5% with fluoroscopy and 50% with ultrasound. Within the ultrasound arm, greater intravascular spread and duration variability were recorded. Conclusion Although ultrasonography can provide reliable image guidance for cannulating the first sacral foramen in cadavers, it would have limited clinical utility due to its inability to visualize relevant neurovascular structures deep to the osseus roof and exclude intravascular uptake. Level of Evidence IV