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Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered. A well-curated registry of schwannomatosis patients is needed to facilitate research in field. An international consortium of clinicians and scientists across multiple disciplines with expertise in schwannomatosis was established and charged with the task of designing and populating a schwannomatosis patient registry. The International Schwannomatosis Registry (ISR) was built around key data points that allow confirmation of the diagnosis and identification of potential research subjects to advance research to further the knowledge base for schwannomatosis. A registry with 389 participants enrolled to date has been established. Twenty-three additional subjects are pending review. A formal process has been established for scientific investigators to propose research projects, identify eligible subjects, and seek collaborators from ISR sites. Research collaborations have been created using the information collected by the registry and are currently being conducted. The ISR is a platform from which multiple research endeavors can be launched, facilitating connections between affected individuals interested in participating in research and researchers actively investigating a variety of aspects of schwannomatosis. © 2016 Wiley Periodicals, Inc.

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AIM: Following subtotal colectomy, the retained rectal stump is a potential source of morbidity. Although restorative ileal pouch-anal anastomosis is the gold standard for ulcerative colitis, up to 14% of patients will opt for a permanent ileostomy and undergo completion proctectomy, traditionally by an abdomino-perineal approach, which itself carries significant morbidity. We describe a new technique of perineal proctectomy using transanal endoscopic microsurgery (TEMS) equipment. To our knowledge, this technique has not previously been described in the literature. METHOD: Twelve patients, mean (SD) age 66 (±13) years, underwent TEMS proctectomy, performed by a single surgeon between January 2007 and October 2011. Excision began with an intersphincteric dissection following which the TEMS (WOLF) proctoscope was inserted and close rectal dissection was performed, entering the peritoneal cavity (if the top of the stump was intraperitoneal). Following perineal extraction of the specimen, the external sphincter and skin were closed with an absorbable suture. RESULTS: Nine patients had inflammatory bowel disease, two had neoplasia and one had intractable radiation proctitis. The mean (SD) rectal stump length was 17.8 (±6.1) cm and the peritoneal cavity was entered in nine patients, with no small-bowel injury. The median postoperative hospital stay was 5.5 days. In four patients there was delayed healing of the perineal wound. There was no perioperative mortality. CONCLUSION: TEMS perineal proctectomy is a novel, but safe, technique that may avoid the need for a traditional abdominoperineal approach in selected patients.

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BACKGROUND AND PURPOSE: Prediction of functional outcome immediately after stroke onset can guide optimal management. Most prognostic grading scales to date, however, have been based on established global metrics such as total NIHSS score, admission infarct volume, or intracranial occlusion on CTA. Our purpose was to construct a more focused, location-weighted multivariate model for the prediction of early aphasia improvement, based not only on traditional clinical and imaging parameters, but also on atlas-based structure/function correlation specific to the clinical deficit, using CT perfusion imaging. MATERIALS AND METHODS: Fifty-eight consecutive patients with aphasia due to first-time ischemic stroke of the left hemisphere were included. Language function was assessed on the basis of the patients admission and discharge NIHSS scores and clinical records. All patients had brain CTP and CTA within 9 hours of symptom onset. For image analysis, all CTPs were automatically co-registered to MNI-152 brain space and parcellated into mirrored cortical and subcortical regions. Multiple logistic regression analysis was used to find independent imaging and clinical predictors of language recovery. RESULTS: By the time of discharge, 21 (36%) patients demonstrated improvement of language. Independent factors predicting improvement in language included rCBF of the angular gyrus GM (BA 39) and the lower third of the insular ribbon, proximal cerebral artery occlusion on admission CTA, and aphasia score on the admission NIHSS examination. Using these 4 variables, we developed a multivariate logistic regression model that could estimate the probability of early improvement in aphasia and predict functional outcome with 91% accuracy. CONCLUSIONS: An imaging-based location-weighted multivariate model was developed to predict early language improvement of patients with aphasia by using admission data collected within 9 hours of stroke onset. This pilot model should be validated in a larger, prospective study; however, the semiautomated atlas-based analysis of brain CTP, along with the statistical approach, could be generalized for prediction of other outcome measures in patients with stroke.

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SUMMARY: There are substantial challenges in the radiologic evaluation of tumor size during clinical trials, and it is important for neuroradiologists to have a firm understanding of these issues. This review will examine measurement approaches, response criteria, selection of lesions for measurement, technical imaging considerations, interval between tumor measurements and response confirmation, and validity of imaging as a measure of efficacy.

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PURPOSE: To recommend a tailored approach to surgical timing in the repair of orbital blow-out fractures, and to offer suggestions for improved functional and aesthetic surgical outcomes. METHODS: Traditional guidelines for surgical timing are reviewed. An evidence-based approach that considers soft-tissue disruption relative to bone-fragment separation is presented. The author's techniques for repair of isolated orbital floor, isolated medial wall, and combined floor-medial wall fractures are presented. RESULTS: As demonstrated previously, greater degrees of soft-tissue incarceration or displacement, with presumably greater intrinsic damage and subsequent fibrosis, result in poorer motility outcomes despite complete release of soft tissues. There is a suggestion that earlier intervention for such injuries might improve outcomes. Lower fornix and transcaruncular incisions, careful extrication of incarcerated tissue, and thin alloplastic implants have proven successful in the author's hands. CONCLUSIONS: The degree of soft-tissue displacement relative to bone fragment distraction, as depicted in preoperative computed tomography (CT) scans, should be considered in the timing of surgery. Incisions, soft-tissue handling, and implant material, thickness, and positioning can all affect the functional and aesthetic outcomes.

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High-functioning autistic and normal school-age boys were compared using a whole-brain morphometric profile that includes both total brain volume and volumes of all major brain regions. We performed MRI-based morphometric analysis on the brains of 17 autistic and 15 control subjects, all male with normal intelligence, aged 7-11 years. Clinical neuroradiologists judged the brains of all subjects to be clinically normal. The entire brain was segmented into cerebrum, cerebellum, brainstem and ventricles. The cerebrum was subdivided into cerebral cortex, cerebral white matter, hippocampus-amygdala, caudate nucleus, globus pallidus plus putamen, and diencephalon (thalamus plus ventral diencephalon). Volumes were derived for each region and compared between groups both before and after adjustment for variation in total brain volume. Factor analysis was then used to group brain regions based on their intercorrelations. Volumes were significantly different between groups overall; and diencephalon, cerebral white matter, cerebellum and globus pallidus-putamen were significantly larger in the autistic group. Brain volumes were not significantly different overall after adjustment for total brain size, but this analysis approached significance and effect sizes and univariate comparisons remained notable for three regions, although not all in the same direction: cerebral white matter showed a trend towards being disproportionately larger in autistic boys, while cerebral cortex and hippocampus-amygdala showed trends toward being disproportionately smaller. Factor analysis of all brain region volumes yielded three factors, with central white matter grouping alone, and with cerebral cortex and hippocampus-amygdala grouping separately from other grey matter regions. This morphometric profile of the autistic brain suggests that there is an overall increase in brain volumes compared with controls. Additionally, results suggest that there may be differential effects driving white matter to be larger and cerebral cortex and hippocampus-amygdala to be relatively smaller in the autistic than in the typically developing brain. The cause of this apparent dissociation of cerebral cortical regions from subcortical regions and of cortical white from grey matter is unknown, and merits further investigation.

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This paper considers the opportunities for noise control within the route corridor required for construction of road, rail and other guided transport schemes. It deals with control of noise generation at source, and in the transmission path close to the point of generation. In this way it is possible to control the amount of acoustic power generated, and to absorb part of the radiated power at points of reflection. Purely reflective wayside barriers do little to absorb acoustic energy, merely reflecting it in a different direction. Whilst this has selfish benefits to the receptor in the shadow zone of the barrier, it makes things worse for others on the reflective side of the geometry. The paper therefore considers the options available to the engineer in the design of rolling and sliding interfaces and the use of acoustically absorptive finishes on all surfaces close to the point of noise generation. This includes the running surface itself, structural components, retaining walls, over and under passes, and the inner surfaces of track and wayside barriers.

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PURPOSE: The aim of this study was to determine first, the reasons for failure to construct a neorectal reservoir after anterior resection and coloanal anastomosis for rectal adenocarcinoma and the rate at which it occurred and second, to determine whether the adoption of a new "coloplasty" pouch-anal anastomosis improved this failure rate. METHODS: From the colorectal cancer database of a single institution, a single surgeon's patients who underwent resection and coloanal anastomosis from March 1990 to June 1999 were identified. After thorough chart review those patients who underwent straight coloanal anastomosis, J-pouch-anal anastomosis, and coloplasty pouch-anal anastomosis could be identified. In each case of straight coloanal anastomosis, the cause of the failure to create a neorectal reservoir was sought. The study group was further subdivided into those who had their operation either before or after the introduction of the coloplasty pouch-anal anastomosis. RESULTS: Of 107 patients who fitted the criteria for study, 66 (61.7 percent) had a J-pouch-anal anastomosis, and 13 (12.1 percent) had a coloplasty pouch-anal anastomosis. Twenty-eight patients had a straight coloanal anastomosis when a neorectal reservoir could not be constructed, an overall failure rate of 26.2 percent for the total period of study. Seven reasons were identified for this failure, of which there were a total of 31 episodes. These reasons were 1) technical (narrow pelvis, bulky anal sphincters or need for mucosectomy, diverticulosis, insufficient colon length or pregnancy) and 2) nontechnical (complex surgery or distant metastases present). Failure to construct a neorectal reservoir for the period of study before the introduction of coloplasty pouch-anal anastomosis occurred in 27 of 88 (30.7 percent) patients. This was reduced to 1 of 19 (5.3 percent) patients in the later period of study, a significant improvement (P = 0.022). CONCLUSIONS: Seven factors have been identified which may result in the failure to construct a neorectal reservoir after rectal resection and coloanal anastomosis. This may occur in a sizable minority of patients. The introduction of coloplasty pouch-anal anastomosis has resulted in a significant improvement in this failure rate.

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PURPOSE: The aim of this retrospective study was to determine which aspects of tumor morphology and histology influenced the incidence of local recurrence after curative resection of colonic adenocarcinoma. METHODS: Patients who had a curative resection for a primary colonic adenocarcinoma between 1980 and 1993 (inclusive) were identified from the colorectal cancer database in the Department of Colorectal Surgery. The charts of patients diagnosed with a local recurrence were then reviewed and their findings at operation and histologic assessment analyzed. Patients were followed up for at least five years or until death. RESULTS: Over the period of study, 1,031 patients had a curative resection for colonic adenocarcinoma. Local recurrences were detected in 32 patients (3.1 percent). The gender distribution of patients with local recurrence was 18 males (56.3 percent) and 14 females (43.7 percent) with a mean age of 63.4 years. The median time to local recurrence was 13 (range, 2-71) months. The distribution of primary tumors that recurred locally favored the cecum (n = 9; 28.1 percent) and sigmoid colon (n = 14; 43.7 percent) over other locations; these were, however, the most common sites of primary lesions. Less common sites included the ascending colon (n = 0; 0 percent), hepatic flexure (n = 2; 6.3 percent), transverse colon (n = 1; 3.1 percent), splenic flexure (n = 3; 9.4 percent), and descending colon (n = 3; 9.4 percent). Of the total number of tumors, 101 were found to be adherent to at least 1 other intra-abdominal viscus, and 12 (11.9 percent) recurred locally. Other factors associated with local recurrence were tumor perforation and fistulation. Overall, 30 tumors (2.9 percent) were perforated, and 6 (20 percent) recurred locally. Four tumors (0.4 percent) were fistulating; of these, 2 (50 percent) recurred locally. Advanced tumor stage was also associated with an increased rate of local recurrence (Stage I, 0 percent; Stage II, 2.05 percent; Stage III, 7.0 percent; and Stage IV, 6.1 percent). Similarly, tumor differentiation was related to local recurrence, with no instances in well-differentiated tumors, 2.8 percent in moderately differentiated tumors, and 6.8 percent in poorly differentiated tumors. CONCLUSIONS: The location of the primary tumor is not a factor in producing local recurrence. Fixity to another viscus, perforation or fistulation, advanced stage of disease, and differentiation of tumor appear to increase the chances of recurrence of curatively resected colonic carcinoma. Although the recurrence rate is higher in these groups than for tumors overall, definitive oncologic surgery prevents recurrence in the majority of cases. No colonic tumor that was T1 or T2 (N0, N1, or N2) or that was well differentiated recurred locally.

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OBJECTIVE: To determine the factors affecting survival following palliative large bowel resection for colorectal adenocarcinoma. PATIENTS AND METHOD: From the Colorectal Cancer Database of a single institution patients who had a palliative resection of a colorectal cancer from 1980 to 1993 inclusive were identified. Survival curves were constructed using the Kaplan-Meier method. Criteria studied were sex, age at operation, site of tumour, T, N and M status, tumour differentiation, involvement of tumour margins, tumour fixity and the presence or absence of peritoneal, liver or distant metastases. Multivariate analysis of factors was conducted using Cox proportional hazards analysis. RESULTS: Three hundred and seventy-seven patients (232 men, 145 women, median age 64 years) fitted the above criteria. Operative mortality was 5.6%. Crude 6 month survival rate was 71.1% and median survival 10.5 months. Significant factors affecting survival on univariate analysis were - Age (<75 vs. >75 years) (P=0.019); T status (T1/T2 vs. T3/T4) (P=0.039); nodal status (N0 vs. N1/N2) (P=0.0059); distant metastases (P=0.039) or liver metastases (P=0.0058); tumour differentiation (poor vs. moderate/well differentiated) (P < 0.001); involved tumour margins (P < 0.001). Multivariate analysis found the following factors significant: age (P=0.02), liver metastases (P=0.05), distant metastases (P=0.044), T status (P=0.042), nodal status (P=0.0063), tumour differentiation (P < 0.001) and involvement of tumour margins (P < 0.001). CONCLUSIONS: The data suggest that palliative resection of advanced colorectal carcinoma should be considered carefully in patients with advanced age, where distant metastases are present and in cases when primary tumours can not be completely resected. For the remaining patients, palliative resection may be accomplished with acceptable operative mortality and postoperative survival.

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BACKGROUND: J pouch-anal anastomosis is thought to give superior functional results to straight coloanal anastomosis after rectal resection. Follow-up studies have suggested that this improvement is not maintained and that evacuatory difficulties may increase. METHODS: Some 119 consecutive patients had a coloanal anastomosis after resection for rectal carcinoma over 113 months, 62 with a J pouch and 57 with a straight coloanal anastomosis. Functional results were determined by patient questionnaire. The two groups were compared for the first and second 5-year intervals of study. RESULTS: Patients who had a J pouch had significantly better median Kirwan continence scores for the duration of the study and 5-9 years after surgery: 1 versus 2 (P = 0.05) and 1 versus 2 (P < 0.01), respectively. Some 5-9 years after surgery the median number of nocturnal bowel movements was significantly lower in patients who had a J pouch than in those with a straight coloanal anastomosis (0 versus 1; P = 0.02). Similarly, significantly better results were seen with regard to evacuation difficulties and urgency of defaecation. CONCLUSION: The function of the J pouch was superior to that of the straight coloanal anastomosis and appeared to improve with time.

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PURPOSE: The tradeoff of neoplasia control for better function represented by a stapled ileal pouch-anal anastomosis is still controversial in patients with familial adenomatous polyposis. We compared outcomes after mucosectomy and hand-sewn ileal pouch-anal anastomosis with those after stapled ileal pouch-anal anastomosis in 119 patients with familial adenomatous polyposis who underwent surgery since 1983. METHODS: Age, gender, length of follow-up, complications, quality of life, incontinence, urgency, nighttime and daytime seepage, pad usage, necessity of ileostomy, and incidence of adenomas developing in pouch and anal transitional zone were recorded. RESULTS: There were 42 mucosectomy and 77 stapled patients who were followed up for an average of 5.8 and 3.6 years, respectively, with endoscopic surveillance. There was one postoperative death in the stapled group that prohibited long-term follow-up. Nine of 42 mucosectomy patients developed pouch adenomas vs. 8 of 76 in the stapled group. Six of 42 patients developed adenomas in the mucosectomized anal transitional zone in the mucosectomy group. Twenty-one of 76 patients developed adenomas in the anal transitional zone in the stapled group. All were managed with local procedures or further surveillance. One of 76 patients developed cancer in the residual low rectum; this required further resection. Patients with stapled anastomosis had better outcomes in every category. Differences in incontinence, daytime and nighttime seepage, pad usage, and avoidance of ileostomy were statistically significant. All patients with mucosectomy required ileostomy vs. only 40 of 77 patients with stapled anastomosis. CONCLUSION: Familial adenomatous polyposis patients with stapled ileal pouch-anal anastomosis have better functional outcome and can avoid temporary diversion. This should be balanced against a 28 percent incidence of adenomas in the anal transitional zone.

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BACKGROUND AND PURPOSE: The goal of this study was to evaluate the utility of perfusion-weighted CT (PWCT) in predicting final infarct volume and clinical outcome in patients with acute middle cerebral artery (MCA) stroke. METHODS: Twenty-two consecutive patients with MCA stem occlusion who underwent intra-arterial thrombolysis within 6 hours of stroke onset had noncontrast CT and CT angiography with whole-brain PWCT imaging before treatment. Infarct volumes were computed from the initial PWCT and follow-up scans; clinical outcome was measured with the modified Rankin scale. RESULTS: Initial PWCT lesion volumes correlated significantly with final infarct volume (P=0.0002) and clinical outcome (P=0.01). For the 10 patients with complete recanalization, the relationship between initial and final lesion volume was especially strong (R(2)=0.94, P<0.0001, slope of regression line=0.92). For those without complete recanalization, there was progression of lesion volume on follow-up imaging (R(2)=0.50, P=0.01, slope of regression line=1.61). All patients with either initial PWCT lesion volumes >100 mL or no recanalization had poor outcomes (Rankin scores, 4 to 6). Mean admission NIH Stroke Scale scores and mean lesion volumes in the poor outcome group were significantly different compared with the good or fair outcome (Rankin scores, 0 to 3) group (21+/-4 versus 17+/-5, P=0.05, and 106+/-79 versus 29+/-37 mL, P=0.01). Patients with initial volumes <100 mL and partial or complete recanalization all had good (Rankin scores, 0 to 2) or fair (Rankin score, 3) outcomes. CONCLUSIONS: Lesion volumes on admission PWCT images approximate final infarct volume for patients with early complete recanalization of MCA stem occlusion. For those without complete recanalization, there is subsequent enlargement of lesion volume on follow-up. Initial PWCT lesion volumes also have predictive value; volumes >100 mL are associated with a poor clinical outcome. In these highly selected patients, initial PWCT lesion volume was a stronger predictor of clinical outcome than was initial NIH Stroke Scale score.

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BACKGROUND: Colonic endolumenal stenting (CELS) to treat obstructing colorectal neoplasms was first described in 1991. The aim of this study was to review the published world literature and make recommendations for its use in current clinical practice. METHODS: Suitable English language reports were identified using a Medline search. RESULTS: CELS can been successfully accomplished in 64% to 100% of obstructing malignant colonic lesions. Distal lesions are more common and theoretically more easy to stent although lesions within the ascending colon have been successfully managed. Minor complications include transient anorectal pain and rectal bleeding, however, significant complications of stent dislocation and colonic perforation are also well recognized. CONCLUSION: CELS can aid the palliative management of malignant colorectal obstruction. Its role in relieving obstruction prior to resection remains to be defined. Increasing experience has allowed the safe placement of stents and relief of obstruction of virtually any lesion throughout the large bowel.

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PURPOSE: Lesion volume is often used as an end point in clinical trials of oncology therapy. We sought to compare the common method of using orthogonal diameters to estimate lesion volume (the diameter method) with a computer-assisted planimetric technique (the perimeter method). METHODS: Radiologists reviewed 825 magnetic resonance imaging studies from 219 patients with glioblastoma multiforme. Each study had lesion volume independently estimated via the diameter and perimeter methods. Cystic areas were subtracted out or excluded from the outlined lesion. Inter- and intrareader variability was measured by using multiple readings on 48 cases. Where serial studies were available in noncystic cases, a mock response analysis was used. RESULTS: The perimeter method had a reduced interreader and intrareader variability compared with the diameter method (using SD of differences): intrareader, 1.76 mL v 7.38 mL (P < .001); interreader, 2.51 mL v 9.07 mL (P < .001) for perimeter and diameter results, respectively. Of the 121 noncystic cases, 23 had serial data. In six (26.1%) of those 23, a classification difference occurred when the perimeter method was used versus the diameter method. CONCLUSION: Variability of measurements was reduced with the computer-assisted perimeter method compared with the diameter method, which suggests that changes in volume can be detected more accurately with the perimeter method. The differences between these techniques seem large enough to have an impact on grading the response to therapy.

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PURPOSE: To evaluate the cost-effectiveness of functional neuroimaging in the work-up of patients at specialized Alzheimer disease clinics. MATERIALS AND METHODS: A decision model was used to calculate costs and benefits (in quality-adjusted life-years [QALYs]) that accrued to hypothetical cohorts of patients at presentation to an Alzheimer disease center. Sensitivity analysis was performed to examine the effects of diagnostic test characteristics, therapeutic efficacy, disease severity, and costs on cost-effectiveness. RESULTS: The incremental cost-effectiveness ratio of dynamic susceptibility contrast material-enhanced magnetic resonance (MR) imaging was $479,500 per QALY (compared with the usual diagnostic work-up), while visual or quantitative single photon emission computed tomography (SPECT) was dominated (higher costs, lower effectiveness) by the usual diagnostic work-up. These results depend critically on the sensitivity and specificity of the standard diagnostic work-up, the effectiveness of drug treatment, and the disease severity. Varying these parameters resulted in estimates of incremental cost-effectiveness for dynamic susceptibility contrast-enhanced MR imaging of $24,680 to $8.6 million per QALY. SPECT either was dominated by the usual diagnostic work-up or had cost-effectiveness ratios of $180,200 to $6 million per QALY. CONCLUSION: The addition of functional neuroimaging to the usual diagnostic regimen at Alzheimer disease clinics is not cost-effective given the effectiveness of currently available therapies.

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The treatment of recurrent colorectal cancer confronts the surgeon with a diagnostic and therapeutic challenge, particularly in cases involving the pelvis. Investigation and treatment in each case is tailored to the individual patient. Treatment is divided into those cases where an attempt at cure is possible and those where only palliation of symptoms is possible. This article seeks to help the surgeon confronted with this problem answer the following questions: Which patients with recurrent colorectal cancer are suitable for consideration of curative resection? What is the extent of disease recurrence? Is the disease resectable? The aim of this article is to offer advice in the logical and appropriate investigation and treatment of patients considered for curative or palliative therapy.

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PURPOSE: On the basis of bacteriologic studies, we have recommended expectant observation with intravenous antibiotics for subperiosteal abscess (SPA) of the orbit in patients less than 9 years of age, given the absence of eight other specific surgical criteria. We attempted to test these recommendations with a prospective study. STUDY DESIGN: Prospective noncomparative case series. PARTICIPANTS: Forty patients younger than 9 years of age treated for orbital SPAs at the Childrens Hospital of Wisconsin from 1988 to 1998. METHODS: Specific management criteria were applied to a cohort of 37 orbital SPA patients. Three other orbital SPA patients under the age of 9, either ineligible for medical therapy or treated outside our guidelines, were also studied. Clinical data for all patients were reviewed and analyzed. MAIN OUTCOME MEASURES: Clinical resolution of the abscess, as evidenced by normal visual acuity, pupillary examination, motility, and globe position on the affected side. RESULTS: Eight patients met criteria for surgical treatment and underwent prompt drainage. Of the 29 patients for whom initial nonsurgical management was recommended, 27 (93.1%) SPAs cleared with expectant observation on intravenous antibiotics, and 2 patients defaulted to surgical intervention. All cases had successful clinical outcomes. CONCLUSIONS: In patients less than 9 years of age, orbital SPAs are likely to resolve without surgery, provided certain surgical criteria are absent.

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