Saccular intracranial aneurysms (IAs) are balloon-like dilations of the intracranial arterial wall; their hemorrhage commonly results in severe neurologic impairment and death. We report a second genome-wide association study with discovery and replication cohorts from Europe and Japan comprising 5,891 cases and 14,181 controls with ∼832,000 genotyped and imputed SNPs across discovery cohorts. We identified three new loci showing strong evidence for association with IA in the combined data set, including intervals near RBBP8 on 18q11.2 (OR=1.22, P=1.1×10-12), STARD13/KL on 13q13.1 (OR=1.20, P=2.5×10-9) and a gene-rich region on 10q24.32 (OR=1.29, P=1.2×10-9). We also confirmed prior associations near SOX17 (8q11.23-q12.1; OR=1.28, P=1.3×10-12) and CDKN2A/B (9p21.3; OR=1.31, P=1.5×10-22). It is noteworthy that several putative risk genes play a role in cell-cycle progression, potentially affecting proliferation and senescence of progenitor cell populations that are responsible for vascular formation and repair.

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IMPORTANCE To our knowledge, few studies have combined an objective measure of vision-related performance (VRP) and subjective measures of vision-related quality of life (VRQoL) with clinically related visual parameters, particularly in a large, prospective, cohort study setting. OBJECTIVE To examine the relationships between clinical visual assessments and both a VRP and 2 self-reported VRQoL measurements. DESIGN, SETTING, AND PARTICIPANTS Patients (N = 161) with moderate-stage glaucoma recruited from the Glaucoma Service at Wills Eye Hospital, Philadelphia, Pennsylvania, were enrolled from May 2012 to May 2014 in an ongoing prospective, 4-year longitudinal observational study. This report includes cross-sectional results from the baseline visit. Patients received a complete ocular examination, automated visual field (VF) test and Cirrus optical coherence tomographic scan. Contrast sensitivity was measured with the Pelli-Robson and the Spaeth-Richman Contrast Sensitivity (SPARCS) tests. Vision-related performance was assessed by the Compressed Assessment of Ability Related to Vision (CAARV) test. Vision-related QoL was assessed by the National Eye Institute Visual Function Questionnaire 25 (NEI-VFQ-25) and a modified Glaucoma Symptom Scale (MGSS). MAIN OUTCOMES AND MEASURES Correlations between clinical measures and CAARV, NEI-VFQ-25, and MGSS scores.RESULTS A total of 161 patients were enrolled in the study. The strongest correlation was found between SPARCS score in the better eye and total CAARV score (r = 0.398; 95% CI, 0.235-0.537; P < .001). The CAARV score also correlated with the Pelli-Robson score (r = 0.353; 95% CI, 0.186-0.499; P = .001), VF mean deviation (r = 0.366; 95% CI, 0.200-0.510; P < .001), and VA (r = −0.326, 95% CI = −0.476 to −0.157; P = .003) in the better eye. There were more statistically significant correlations between contrast sensitivity tests and VF mean deviation with VRQoL measurements than with other clinical measures (visual acuity, intraocular pressure, Disc Damage Likelihood Scale, and mean retinal nerve fiber layer thickness). The MGSS scores were lower (worse) in women compared with men (P = .03 for binocular, P = .01 for better eye, and P = .05 for the worse eye). Structural measures (eg, Disc Damage Likelihood Scale, and retinal nerve fiber layer thickness) were generally not informative with respect to VRP or VRQoL.CONCLUSIONS AND RELEVANCE Contrast sensitivity tests and VF mean deviation were associated with both objective measures of the ability to act and subjective measurements of VRQoL. The strongest correlation was between SPARCS score (contrast sensitivity) in the better eye and total CAARV score. Therefore, measurement of contrast sensitivity should be considered when evaluating patients' VRQoL. The results of this study were limited by the patient population and apply only within the bounds of the tested cohort.

Study Design Retrospective case series. Objective Ankylosing spondylitis (AS) and diffuse idiopathic skeletal hyperostosis (DISH) are two related diseases that significantly increase the risk of unstable spinal fractures from seemingly trivial trauma. Given the older age and higher surgical risk profile of most of these patients, minimally invasive (MIS) approaches to the treatment of such fractures may reduce operative risk and physiologic stress. Methods Eleven consecutive patients with hyperextension thoracolumbar injuries and a diagnosis of AS or DISH admitted to a single level I trauma center between June 2009 and June 2014 were retrospectively reviewed. All patients were treated with MIS stabilization. In addition, the patients were administered the Oswestry Disability Index and EuroQol-5D surveys to evaluate patient-reported outcomes regarding disability and health-related quality of life, respectively. Results Of the 11 patients, 10 were alive at the time of review. The mean follow-up time was 28 months. The average age was 77 years old with a mean body mass index of 34. All patients had severe systemic disease, American Society of Anesthesiologists grade III, with multiple medical comorbidities. Seven segments on average were included in the operative construct. There were no instrumentation failures or nonunions requiring revision surgery. The average postoperative Oswestry disability index was 21.5% (range: 0 to 34%), corresponding to low to moderate disability, and the average EuroQol-5D utility score was 0.77 (range: 0.60 to 1), a similar average postoperative utility value to those published in the literature on elective surgery for degenerative lumbar conditions. Conclusions MIS stabilization, when used on patients with good preoperative neurologic status, can successfully manage spinal fractures in patients with AS and DISH and preserve a favorable postoperative quality of life with limited disability.

OBJECTIVE Tarlov cysts (TCs) occur most commonly on extradural components of the sacral and coccygeal nerve roots. These lesions are often found incidentally, with an estimated prevalence of 4%–9%. Given the low estimated rates of symptomatic TC and the fact that symptoms can overlap with other common causes of low-back pain, optimal management of this entity is a matter of ongoing debate. Here, the authors investigate the effects of surgical intervention on symptomatic TCs and aim to solidify the surgical criteria for this disease process. METHODS The authors performed a retrospective review of data from consecutive patients who were surgically treated for symptomatic TCs from September 2011 to March 2013. Clinical evaluations and results from surveying pain and overall health were used. Univariate statistical analyses were performed. RESULTS Twenty-three adults (4 males, 19 females) who had been symptomatic for a mean of 47.4 months were treated with laminectomy, microsurgical exposure and/or imbrication, and paraspinous muscle flap closure. Eighteen patients (78.3%) had undergone prior interventions without sustained improvement. Thirteen patients (56.5%) underwent lumbar drainage for an average of 8.7 days following surgery. The mean follow-up was 14.4 months. Univariate analyses demonstrated that an advanced age (p = 0.045), the number of noted perineural cysts on preoperative imaging (p = 0.02), and the duration of preoperative symptoms (p = 0.03) were associated with a poor postoperative outcome. Although 47.8% of the patients were able to return to normal activities, 93.8% of those surveyed reported that they would undergo the operation again if given the choice. CONCLUSIONS This is one of the largest published studies on patients with TCs treated microsurgically. The data suggest that patients with symptomatic TCs may benefit from open microsurgical treatment. Although outcomes seem related to patient age, duration of symptoms, and extent of disease demonstrated on imaging, further study is warranted and underway.

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Of all patients with MHI with an abnormal NE at the time of RHCT, 63% had a PA-NE. Although a RHCT is beneficial to patients with an acutely deteriorating or U-NE, it appears to be of little value in patients with a PA-NE. Compared with RHCT, serial NE may be a stronger predictor for the need for intervention in patients with MHI.

The current U.S. economic recession has resulted in a loss of income, housing, and healthcare coverage. Our major goal in this socioeconomic setting was to provide ophthalmic remote health screenings for urban soup kitchen and homeless populations in order to identify and refer undetected vision-threatening disease (VTD). We assessed visual acuity, blood pressure, pulse/oxygen saturation, body mass index, and intraocular pressure for 341 participants at soup kitchens as part of the homeless outreach program in Newark, NJ. History of diabetes, hypertension, and smoking, last ocular examination, and ocular history were noted. Imaging was performed with an 8.2 megapixel non-mydriatic retinal camera with high-speed Internet ready for off-site second opinion image evaluation. Positive VTD findings were identified in 105 participants (31%) (mean age, 53.6 years), of whom 78% were African American, 73% males, and 62% smokers. We detected glaucoma in 34 participants (32%), significant cataract in 22 (21%), diabetic retinopathy in 5 (5%), optic atrophy in 1 (1%), age-related macular degeneration in 1 (1%), and other retinal findings in 43 (41%). The incidence of VTDs was higher among this cohort than among study groups in previous screenings (31% vs. 12%). This finding shows an increase in ocular morbidity in a younger, at-risk population with elevated rates of hypertension, diabetes, and smoking. Functional visual impairment was 2.5 times higher than the national average (16% vs. 6.4%). Comprehensive, community-based screenings can provide more sensitive detection of VTDs in high-risk groups with low access to ophthalmic care and can be an integral part of recession solutions for improving healthcare.