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Objective: To evaluate the role of weekly neurofibromatosis (NF) multi-disciplinary conferences (MDC) on the diagnostic and therapeutic plan for patients with NF type 1 (NF1) and schwannomatosis (SWN). Materials and methods: This retrospective study reviewed patients with confirmed or suspected NF1 and SWN discussed in weekly MDC from March to July 2021. Demographic data collected included patient age, sex, pre-conference and post-conference diagnosis, radiological studies reviewed, and provider specialties in attendance. Outcomes reported included changes in imaging interpretation and treatment plans, changes in post-conference diagnosis relative to pre-conference diagnosis, and time to completion of the recommended change in treatment. Results: Data from 17 MDC "pre-conference" lists included 75 patients (38 female, 37 males, mean age (years): 38 (range: 6–80)) with NF1 (52%, 39/75) and SWN (36%, 27/75) discussed over a total of 91 case reviews. 18.7% (14/75) of all patients had NF2-related SWN, and 17.3% (13/75) of all patients had non-NF2 SWN. The MDC led to changes in imaging interpretation in 18.7% and changes in patient management in 74.7% (diagnostic testing (n = 52), surgical plan (n = 24), medical treatment (n = 9), clinical trial status (n = 4), and radiation treatment (n = 1)) of cases. Among patients for whom a change in management was recorded, 91% (62/68) completed at least one recommendation (mean time to completion (days): 41.4 (range: 0–278)). Conclusion: Weekly MDC changes the diagnostic and therapeutic management of the majority of patients discussed (74.7%) and promotes a high adherence rate to recommendations (91%). [ABSTRACT FROM AUTHOR]

Sciatic nerve mass-like enlargement caused by peripheral nerve sheath tumors or neurocutaneous syndromes such as neurofibromatosis or schwannomatosis has been widely reported. Other causes of enlargement, such as from perineuroma, fibromatosis, neurolymphoma, amyloidosis, endometriosis, intraneural ganglion cyst, Charcot-Marie-Tooth disease, and chronic inflammatory demyelinating polyneuropathy are relatively rare. High-resolution magnetic resonance imaging (MRI) is an excellent non-invasive tool for the evaluation of such lesions. In this article, the authors discuss normal anatomy of the sciatic nerve and MRI findings of the above-mentioned lesions. [ABSTRACT FROM AUTHOR]

Introduction The current study describes the impact of surgery in preventing follow-up ipsilateral transient ischemic attacks (TIAs)/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1). Methods We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990–2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected and compared between a revascularization group (group 1) and a conservatively managed group (group 2) on a per-hemisphere basis. Results A total of 9 patients (14 hemispheres) were included in our study. The average age of all patients at NF1 diagnosis was 2.1 ± 7.7 years, with 6 being female (66.7%). The average age of all patients at MMS diagnosis was 10.4 ± 16.6 years with the median age being 7.7 years (range: 4.1–27.0 years). Race distribution was: White ( n = 4, 44.4%), Black ( n = 3, 33.3%), and Asian ( n = 2, 22.2%). Four patients (44.5%) experienced cerebrovascular manifestations of MMS before MMS diagnosis. Group 1 was younger at MMS diagnosis ( P = 0.009), likely with a more acute symptom onset ( P = 0.077). Management strategies were: pial synangiosis ( n = 3, 21.4%) and conservative ( n = 11, 78.6%). During an average follow-up period of 6.28 ± 2.0 years, no ipsilateral TIAs/strokes were observed for group 1; conversely, 2 ipsilateral TIAs (18.2%) and 2 ipsilateral strokes (18.2%) occurred in group 2. Conclusions In our study of non-Asian patients with MMS-NF1, revascularization reduced stroke recurrence and deterioration of symptoms. However, more studies are warranted to further explore the role of revascularization procedures given the rarity of this disease combination. [ABSTRACT FROM AUTHOR]

Abstract: Background: The aim of this study was to evaluate the influence of patient and adenoma characteristics on 99mTc–methoxy isobutyl isonitrile (MIBI) scan performance in individuals diagnosed with primary hyperparathyroidism (PHP). Methods: Records of patients undergoing parathyroidectomy for PHP over 6 years at a single center were reviewed. Results: The overall true-positive (TP) rate for 99mTc-MIBI scans was 56%. Adenomas sized 1.9 to 3.5 cm were more likely to have TP scans than 0.3-cm to 1.8-cm adenomas (74% vs 40%, P < .001). Preoperative ionized calcium levels between 1.49 and 1.72 mmol/L were more likely to have TPs than levels between 1.27 and 1.48 mmol/L (65% vs 47%, P < .05). No single class of medication was shown to significantly effect TP rates. A decrease in TP rate was observed for larger adenomas in patients on ≥1 medication (74% vs 65%, P = .05). Conclusions: In PHP, 99mTc-MIBI scan positivity is most related to adenoma size and preoperative ionized calcium level. [Copyright &y& Elsevier]