Citations

The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP‐AP4B1), is due to bi‐allelic loss‐of‐function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP‐4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Since 2011, 11 individuals from six families with AP4B1 mutations have been reported, nine of whom had homozygous mutations and were from consanguineous families. Here we report eight patients with AP4B1‐associated SPG47, the majority born to non‐consanguineous parents and carrying compound heterozygous mutations. Core clinical features in this cohort and previously published patients include neonatal hypotonia that progresses to spasticity, early onset developmental delay with prominent motor delay and severely impaired or absent speech development, episodes of stereotypic laughter, seizures including frequent febrile seizures, thinning of the corpus callosum, and delayed myelination/white matter loss. Given that some of the features of AP‐4 deficiency overlap with those of cerebral palsy, and the discovery of the disorder in non‐consanguineous populations, we believe that AP‐4 deficiency may be more common than previously appreciated.

Abstract Background and study aims Little is known about the learning curve for image interpretation in volumetric laser endomicroscopy (VLE) in Barrett’s esophagus (BE). The goal of this study was to calculate the learning curve, competence of image interpretation, sensitivity, specificity, and accuracy of VLE among novice users. Methods 31 novice users viewed 96 VLE images electronically at three academic institutions after a brief training session. There were 24 images of each histologic type: normal gastric cardia, normal esophageal squamous epithelium, non-neoplastic BE, and neoplastic BE. The users were asked to identify the correct tissue type and level of confidence. The cumulative summation (CUSUM) technique was used to construct a learning curve. Results 22 (71 %) of the physicians achieved VLE interpretation competency during their 96-slide review. Half of the physicians achieved competency at 65 images (95 % confidence interval [CI] 45 – 85). There was a statistically significant association between confidence in diagnosis and selecting the correct histologic tissue type (P < 0.001). The median accuracy for esophageal squamous epithelium, normal gastric cardia, non-neoplastic BE, and neoplastic BE was 96 % (95 %CI 95 % – 96 %), 95 % (95 %CI 94 % – 96 %), 90 % (95 %CI 88 % – 91 %), 96 % (95 %CI 95 % – 96 %). The overall accuracy was 95 % (95 %CI 93 % – 95 %). Conclusion The majority of novice users achieved competence in image interpretation of VLE for BE, using a pre-selected image set, with a favorable learning curve after a brief training session. An electronic review of VLE images, prior to real-time use of VLE, is encouraged.

Background Very few studies have examined vestibular schwannoma (VS) management trends across centers and between providers. The objective of this study is to examine current practice trends, variance in treatment philosophies, and nuanced or controversial aspects of VS care across North America. Methods This is a cross-sectional survey of North American Skull Base Society (NASBS) members who report regular involvement in VS care. Results A total of 57 completed surveys were returned. Most respondents claimed to have over 20 years of experience and the majority reported working in an academic practice with an affiliated otolaryngology and/or neurosurgery residency program. Sixty-three percent of respondents claimed to evaluate VS patients in clinic with both an otolaryngologist and neurosurgeon involved. Eighty-six percent of respondents claimed to operate on VS with both an otolaryngologist and neurosurgeon involved, while only 18% of neurosurgeons and 9% of otolaryngologists performed surgery alone. There was a wide range in the number of cases evaluated at each center annually. Similarly, there was wide variation in the number of patients treated with microsurgery and radiation at each center. Additional details regarding management preferences for microsurgery, stereotactic radiosurgery, stereotactic radiotherapy, and conservative observation are presented. Conclusion VS management practices vary between providers and centers. Overall, most centers employ a multidisciplinary approach to management with collaboration between otolaryngology and neurosurgery. Overall, survey responses concur with previous studies suggesting a shift toward conservatism in management.

Introduction Perioperative care of vestibular schwannoma (VS) patients is extremely variable across surgeons and institutions making practice patterns difficult to standardize. No data currently exist detailing this practice variability. Methods The North American Skull Base Society membership was electronically surveyed regarding perioperative care of surgically operated VS patients. Results There were 87 respondents to the survey. Surgical positioning, surgical approach utilized, and perioperative medical adjuncts are quite variable. However, of those performing retrosigmoid approaches, 49% perform this in the supine position, while 33% use a park-bench position with only 2% using the sitting position. In those performing translabyrinthine approaches, 86% perform this in supine position. Although the use of neuromonitoring appears to be standard of care (98%), other than the seventh nerve, there is substantial variability between respondents regarding monitoring of additional cranial nerves. Postoperative antibiotics are used by 65%, postoperative steroids 81%, and postoperative chemical deep vein thrombosis prophylaxis in 68% of survey respondents. Conclusion Although the perioperative adjuncts to VS surgery are variable, there does appear to be a trend in common practice. Therefore, making surgeons aware of these trends may lead to standardized practice or alternatively trials of these variances to instruct which truly improve patient outcomes.

AbstractUterine fibroids affect a wide cross-section of the population, with prevalence, symptom severity, and overall disease burden generally higher among black women, likely due to both genetic and environmental factors. Potential symptoms of uterine fibroids include painful and excessive uterine bleeding, interference with everyday life and self-image, and impaired fertility. Because of the high estimated prevalence and costs associated with treatments, the direct and indirect costs of uterine fibroids are substantial for both the health care system and the individual patient. Special patient populations—such as black women, women seeking to retain fertility, and women with asymptomatic fibroids—have particular treatment needs that require a variety of diagnostic methods and treatment options. Despite the widespread occurrence of uterine fibroids and newer treatment options, little high-quality data are available to formulate evidence-based guidelines that address these unmet patient needs. Specific areas in need of attention include improving diagnostic techniques, increasing patient access to early treatment, and identifying best practices for this diverse patient population.

AbstractIntroduction: Research is crucial for health-care delivery. However, medical students may not participate in research during their training, which might negatively affect their understanding of the importance of research and their future ability to conduct research projects. This is more prominent in developing countries. We aim to assess the attitudes of a sample of Syrian medical students toward research and suggest plausible solutions to reduce their self-reported barriers. Methods: A cross-sectional study was conducted using a self-administered, pretested questionnaire. Results: Three hundred and twenty-three responses were included. Most students demonstrated positive attitudes toward research. However, most of the responses indicated that they did not receive any training in academic writing or research and therefore did not have the opportunity to participate in formal research projects or scholarly writing. Students reported various types of barriers that challenged their progress in the field of research. Students who reported being encouraged by their professors to participate in research and writing/publishing scientific papers or reported receiving training about these activities were more likely to participate in research projects or writing scientific articles. Conclusion: Students have positive attitudes toward research and publication while they reported poor education, limited participation, and presence of many barriers that impede their participation in such activities.

Objectives The objective of this study was to identify factors that may influence the rate and location of regional metastasis in sinonasal malignancies (SNMs). Design This is a retrospective review. Setting This study was set at the single-institution tertiary referral center. Participants A total of 299 patients were treated for SNMs from 1994 to 2014. Main Outcome Measures The main outcome measures were incidence and distribution of regional metastases. Results Several histologic subtypes were treated, with squamous cell carcinoma (28.4%), esthesioneuroblastoma (18.1%), and mucosal melanoma (12.4%) being the most common. Of the 299 patients, 59 (19.7%) developed a regional metastasis, either at presentation or during follow-up. Higher cumulative incidence of regional metastases was significantly associated with histologic type (p ≤0.001) and invasion of the dura (p = 0.005), infratemporal fossa (p = 0.036), orbit (p = 0.020), or palate (p = 0.016). Ipsilateral level II lymph nodes were the most commonly involved nodes. Contralateral regional metastases were associated with higher risk histologic types (p = 0.005) and dural invasion (p = 0.008). Parotid metastases were associated with invasion of the facial soft tissue (p = 0.028), and retropharyngeal metastases were associated with invasion of the pterygoid plates and musculature (p = 0.030). Conclusion Histologic type of SNM appears to be the most important factor in predicting the rate of regional metastases. Histologic type and invasion of certain neighboring structures may help define which lymphatic basins are at highest risk for metastasis.

Abstract Objective: To assess the prevalence of gluten-free diet (GFD) among school-age children in Olmsted County, Minnesota, and compare it with the prevalence of celiac disease (CD) in the same age group. Methods: We performed a population-based study in Olmsted County using a survey to collect information from the six school districts in the county for the academic year 2014–2015. The survey contained questions to (1) assess the prevalence of GFD among school-age children in the public schools of Olmsted County; (2) assess the prevalence of CD among school-age children in Olmsted County; and (3) determine the indications for GFD in these children. We used the infrastructure of the Rochester Epidemiology Project (REP) to calculate the prevalence of CD in children aged 4–18 years in December 2014. Results: Using the REP data, we identified sixty patients with CD in the county aged 4–18 years; the prevalence of CD among school students in 2014 was 193.6/100,000. The prevalence of GFD in Olmsted County children, however, was higher, at 265/100,000 according to the survey from the school districts. The prevalence of GFD was highest in Rochester, the largest city. GFD was more common among children in secondary schools. Conclusion: According to our study, there are more children on GFD than the actual cases of CD in Olmsted County during the study period. This finding could be related to an increased number of children without CD who are following GFD for other indications.

AbstractMedial meniscus posterior root tears (MMPRTs) are a significant source of pain and dysfunction. The purpose of this study was to evaluate changes in the medial compartment of the knee over time following the diagnosis of a MMPRT on MRI. A retrospective review of the institutional database was performed for patients with an initial MRI diagnosis of a MMPRT. Patients were included if they had a subsequent follow-up MRI on the same knee. Patients with surgical intervention, including debridement or repair, were excluded. MRIs were evaluated by two board-certified musculoskeletal radiologists. MMPRTs were defined using the LaPrade classification, and the medial compartment articular cartilage was graded using the modified Outerbridge classification. MRIs were reviewed for meniscus extrusion, subchondral bone edema, and insufficiency fractures. Patients were divided into two groups for the analysis to account for differences in MRI time intervals. Group 1 had a follow-up MRI within 12 months of initial imaging (subacute group) and Group 2 had a follow-up MRI greater than 12 months after initial imaging (chronic group). Forty-one knees and 82 MRIs were analyzed, including 20 knees/40 MRIs (13 females, 7 males) in the subacute group and 21 knees/42 MRIs (14 females, 7 males) in the chronic group. Subacute patients had a mean age of 59.5 ± 8.8 years and a mean interval of 4.8 ± 2.6 months between MRIs compared with 53.6 ± 11.0 years and 38.2 ± 20.8 months, respectively, for the chronic group. Meniscal extrusion, femoral modified Outerbridge grade, and tibial modified Outerbridge grade worsened between initial and final MRI in both groups (p < 0.05). In both groups, there were no significant differences between initial and final MRIs with regard to the LaPrade classification, insufficiency fracture, or subchondral cysts of the tibia. Progressive meniscus extrusion and medial compartment articular cartilage degeneration were seen in patients with MMPRTs within a year from diagnosis.