Citations

We used whole‐exome sequencing to identify variants other than APOE associated with the rate of hippocampal atrophy in amnestic mild cognitive impairment. An in‐silico predicted missense variant in REST (rs3796529) was found exclusively in subjects with slow hippocampal volume loss and validated using unbiased whole‐brain analysis and meta‐analysis across 5 independent cohorts. REST is a master regulator of neurogenesis and neuronal differentiation that has not been previously implicated in Alzheimer's disease. These findings nominate REST and its functional pathways as protective and illustrate the potential of combining next‐generation sequencing with neuroimaging to discover novel disease mechanisms and potential therapeutic targets. Ann Neurol 2015;77:547–552

Background Debate surrounds the validity of patch testing for allergic contact dermatitis in patients taking immunosuppressants and the extent to which these medications suppress patch test reactions. Previous studies have demonstrated that corticosteroids can suppress immune reactions measured in patch testing. Because immunomodulators are increasingly used, their impact on patch testing also requires evaluation. Objectives This study aimed to report patch test results in patients taking specific immunosuppressants and to review relevant literature. Methods A retrospective review of patients patch tested with the standard series at Mayo Clinic in Rochester, Minnesota, between January 1, 2008, and December 31, 2011, was conducted. Conclusions Positive patch test results occur during methotrexate therapy. How reactions would differ with no immunosuppression is unclear.

Importance Direct transcutaneous resection has been a widely accepted standard for the removal of benign forehead lesions. In recent years, the endoscopic approach has become more prevalent because of its noninvasiveness. To date, only a few studies with limited case numbers have reported on this technique. We report our findings from one of the largest cohorts of patients undergoing tumor resection of the forehead via the endoscopic approach. Objectives To evaluate results of the endoscopic forehead approach for benign tumor excisions, to give a more nuanced insight into this procedure, and to discuss technical pearls and potential pitfalls from our experience. Design, Setting, and Participants Multicenter, retrospective case study at 2 university centers and 1 private practice among 36 patients aged 18 to 72 years (mean age, 44 years) who underwent the endoscopic forehead approach for benign tumor resections. Main Outcomes and Measures Symptoms at presentation, surgical procedure and duration, type of lesions, intraoperative and postoperative complications, recurrences, and patient satisfaction. Results In total, 34 patients had an asymptomatic forehead mass, while 2 patients reported discomfort and headache. Among all patients, complete tumor excision was achieved endoscopically. The mean operative time was 36 minutes. Histopathological examination revealed 18 lipomas, 13 osteomas, 2 dermoid cysts, and 1 bone fragment after previous rhinoplasty. In 2 patients, no specimen was submitted. No hematomas, infections, scalp numbness, contour irregularities, temporal branch paralysis, or tumor recurrences occurred. One patient had a prolonged area of alopecia, which resolved on its own. All patients attested to a high satisfaction rate. Conclusions and Relevance The endoscopic approach offers excellent aesthetic results and allows for safe tumor removal. It has proven to be an effective and minimally invasive alternative to the conventional open approach. Level of Evidence 4 .

Background Recognition of allergic contact dermatitis attributed to textile dyes and resins is steadily increasing. Objective This study aims to review the results of patch testing with a textile series at our institution and to compare with previously published reports. Methods We performed a retrospective review of results in patients who underwent patch testing using a series of textile dyes and resins from January 1, 2000, through September 30, 2011. Results A total of 671 patients (mean age, 56.5 years; female, 65.9%) were patch tested with the textile series (42 dyes and resins). These patients were also generally tested with the standard patch test series (n = 620). Of the patients, 219 (32.6%) demonstrated allergic reaction to 1 or more textile dyes and resins, and 71 (10.6%) manifested irritant reactions. The most frequent allergens were disperse blue 106 1% (8.3%), disperse blue 124 1% (8.0%), and melamine formaldehyde 7% (8.0%). Of patients tested with the standard series, 36 (5.8%) showed a positive reaction to the traditional textile screening allergen p -phenylenediamine 1%. Conclusions Supplementing the standard series with the textile series increased detection of textile allergies. In patients suspected of textile allergy, addition of the textile series is necessary for appropriate diagnosis.

Objective This study explored posterior nasopharyngeal augmentation with an acellular dermal matrix sheeting. Design Evaluation of the persistence and safety of a submucosal implant of rolled acellular dermis over a 3-month period in a piglet model. Setting Institute Hills Facility, part of the Mayo Clinic Rochester health care facility. Participants Fifteen 5-week-old domestic piglets of unspecified gender. Interventions Twelve piglets were implanted at age 5 weeks with a rolled sheet of acellular dermal matrix (Strattice). Implants were inserted in a submucosal pocket in the soft palate. Three piglets underwent sham operations, with creation of submucosal pockets without implantation. After a 3-month observation period, the palates were harvested for evaluation. Results Grossly, persistence of bulk at the surgical site in 5 of the 12 implanted piglets was noted at 3 months. Histologically, no persistence of the dermal matrix could be observed. Incorporation and/or resorption of the dermal matrix occurred with minimal to no host inflammatory response. Conclusion This experiment demonstrated the safety of a rolled acellular dermal implant in a submucosal location in a pig model, without surgical complication, host inflammatory reaction, or rejection. Minimal, if any, bulk of the implant persisted in the implanted location after 3 months. Although acellular dermal matrix sheeting appears to be safe and well-tolerated, it does not offer a long-term treatment option for posterior pharyngeal augmentation.

ObjectivesTo review the natural history of occult head and neck malignancy presenting with facial pain and evaluate the risk factors, diagnostic workup, and management of facial pain in the setting of occult malignancy.Study DesignRetrospective chart review.SettingTertiary care center.Subjects and MethodsAll patients presenting from 1980 to 2010 with facial pain and a delayed diagnosis of a head and neck cancer were reviewed.ResultsThirty‐eight patients were included. Onset of pain was rapid or sudden in 94.7%, intermittent in 84.2%, and sharp in 86.8%. Facial nerve weakness was present in 15.8%. Five patients had a history of locoregional skin cancer, and 14% had a history of malignancy. Average delay to diagnosis was 18.4 months. On average, the suspicious lesion was identified on the second scan (mean, 2.1; range, 1‐4 scans). Diagnosis was suggested by magnetic resonance imaging in 54.8% and computed tomography in 38.7% of patients. The most common pathology was squamous cell carcinoma (39.5%), and the predominant location was the parotid gland (28.9%). Surgical resection (66%) was the most common intervention. In patients who received treatment and had clinical follow‐up available for review, 97.0% (32/33) reported symptomatic improvement.ConclusionsIn our series, sudden‐onset, intermittent, sharp facial pain without resolution or improvement was associated with occult malignancy and should be considered in the differential diagnosis for facial pain. Based on the high incidence of early negative imaging, consideration should be given to repeat imaging when there is concern for malignancy. Therapeutic interventions often result in improvement of facial pain.

Context: Research examining the source of excess soluble fms-like tyrosine kinase 1 (sFLT1) in preeclampsia has focused on the placenta. The potential contribution of the releasable store of sFLT1 in the systemic vasculature is unknown. Objective: We asked whether the nonplacental releasable store of sFLT1 is larger in women with previous preeclampsia than in women with a previous uncomplicated pregnancy. Design: We administered heparin to nulligravid women and to women with previous preeclampsia or a previous uncomplicated pregnancy. We compared post-heparin sFLT1 concentrations with those observed in uncomplicated pregnancy and preeclampsia. Setting: The study was performed at Magee-Womens Hospital. Patients: Participants included nulligravidas (n = 8), women 6–24 months postpartum (previous uncomplicated pregnancy, n = 16; previous preeclampsia, n = 15), and pregnant women (uncomplicated pregnancy, n = 30; preeclampsia, n = 25). Intervention: Nonpregnant women received an unfractionated heparin bolus. Main Outcome Measures: Pre- and post-heparin plasma sFLT1, placental growth factor, and vascular endothelial growth factor were measured. Results: In nonpregnant women, heparin increased plasma sFLT1 by 250-fold (P < .01), increased placental growth factor by 7-fold (P < .01), and decreased free vascular endothelial growth factor (P < .01). These changes did not differ between nulligravidas, women with previous preeclampsia, and women with a previous uncomplicated pregnancy. Post-heparin sFLT1 in nonpregnant women was higher than sFLT1 in uncomplicated pregnancy, but lower than sFLT1 in preeclampsia. Baseline and post-heparin sFLT1 were positively correlated (r2 = 0.19; P < .01). Heparin increased the concentration of the 100-kDa sFLT1 isoform. Adding heparin to whole blood or plasma did not increase sFLT1. Conclusions: Nonpregnant women have a significant vascular store of releasable sFLT1. The size of this store does not differ between women with previous preeclampsia vs women with previous uncomplicated pregnancy.