Citations

Objective IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase–isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to IBS. We tested sucrase–isomaltase ( SI ) gene variants for their potential relevance in IBS. Design We sequenced SI exons in seven familial cases, and screened four CSID mutations (p.Val557Gly, p.Gly1073Asp, p.Arg1124Ter and p.Phe1745Cys) and a common SI coding polymorphism (p.Val15Phe) in a multicentre cohort of 1887 cases and controls. We studied the effect of the 15Val to 15Phe substitution on SI function in vitro. We analysed p.Val15Phe genotype in relation to IBS status, stool frequency and faecal microbiota composition in 250 individuals from the general population. Results CSID mutations were more common in patients than asymptomatic controls (p=0.074; OR=1.84) and Exome Aggregation Consortium reference sequenced individuals (p=0.020; OR=1.57). 15Phe was detected in 6/7 sequenced familial cases, and increased IBS risk in case–control and population-based cohorts, with best evidence for diarrhoea phenotypes (combined p=0.00012; OR=1.36). In the population-based sample, 15Phe allele dosage correlated with stool frequency (p=0.026) and Parabacteroides faecal microbiota abundance (p=0.0024). The SI protein with 15Phe exhibited 35% reduced enzymatic activity in vitro compared with 15Val (p<0.05). Conclusions SI gene variants coding for disaccharidases with defective or reduced enzymatic activity predispose to IBS. This may help the identification of individuals at risk, and contribute to personalising treatment options in a subset of patients.

Background and aim Disease activity for Crohn's disease (CD) and UC is typically defined based on symptoms at a moment in time, and ignores the long-term burden of disease. The aims of this study were to select the attributes determining overall disease severity, to rank the importance of and to score these individual attributes for both CD and UC. Methods Using a modified Delphi panel, 14 members of the International Organization for the Study of Inflammatory Bowel Diseases (IOIBD) selected the most important attributes related to IBD. Eighteen IOIBD members then completed a statistical exercise (conjoint analysis) to create a relative ranking of these attributes. Adjusted utilities were developed by creating proportions for each level within an attribute. Results For CD, 15.8% of overall disease severity was attributed to the presence of mucosal lesions, 10.9% to history of a fistula, 9.7% to history of abscess and 7.4% to history of intestinal resection. For UC, 18.1% of overall disease severity was attributed to mucosal lesions, followed by 14.0% for impact on daily activities, 11.2% C reactive protein and 10.1% for prior experience with biologics. Overall disease severity indices were created on a 100-point scale by applying each attribute's average importance to the adjusted utilities. Conclusions Based on specialist opinion, overall CD severity was associated more with intestinal damage, in contrast to overall UC disease severity, which was more dependent on symptoms and impact on daily life. Once validated, disease severity indices may provide a useful tool for consistent assessment of overall disease severity in patients with IBD.

BACKGROUND Dermatofibrosarcoma protuberans (DFSP) is a soft tissue tumor with slow infiltrative growth and local recurrence if inadequately excised. OBJECTIVE To compare long-term outcomes after Mohs micrographic surgery (MMS) and wide local excision (WLE). MATERIALS AND METHODS Records of patients with DFSP surgically treated with WLE or MMS from January 1955 through March 2012 were retrospectively reviewed. RESULTS Mean follow-up for patients treated with MMS (n = 67) and WLE (n = 91) was 4.8 and 5.7 years, respectively. Twenty-eight patients (30.8%) with WLE had recurrence (mean, 4.4 years), whereas only 2 (3.0%) with MMS had recurrence (1.0 and 2.6 years). Recurrence-free survival rates at 1, 5, 10, and 15 years were significantly higher with MMS (p < .001). Mean preoperative lesion sizes were similar (5–6 cm) between the 2 groups, whereas mean (standard deviation) postoperative defect sizes were 10.7 (4.3) cm and 8.8 (5.5) cm for WLE and MMS, respectively (p = .004). Primary closure was used for 73% of MMS cases, whereas WLE more commonly used flaps, grafts, or other closures (52%). Two Mohs layers typically were required for margin control. CONCLUSION Surgical excision with meticulous histologic evaluation of all surgical margins is needed for DFSP treatment to achieve long-term high cure rates and low morbidity.

BACKGROUND Hidradenitis suppurativa (HS) is a progressive, recurrent inflammatory disorder. OBJECTIVE To assess long-term satisfaction and postoperative perceptions among patients who underwent surgical management of HS. MATERIALS AND METHODS A questionnaire was mailed to 499 HS surgical patients to assess surgical outcome, satisfaction, and quality of life. RESULTS Of the 499 questionnaires mailed, 113 were returned (22.6% response rate) and 2 were excluded for redundancy. Of the 111 respondents, 65 (58.6%) were female, 91 (82.0%) had Hurley Stage III disease, 88 (79.3%) were treated with excision and 23 (20.7%) with unroofing, 45 (40.5%) had perianal or perineal disease, and 41 (36.9%) had axillary disease. Most patients were satisfied or very satisfied with their surgical results (84.7%; 94 of 111), were glad they underwent surgery (96.3%; 105 of 109), and would recommend surgery to a friend or relative (82.6%; 90 of 109). Most patients were satisfied or very satisfied with the appearance of their healed wound (62.4%; 68 of 109). Retrospective mean quality of life increased significantly from 5 preoperatively to 8.4 postoperatively (p < .001). CONCLUSION Hidradenitis suppurativa surgical management was well regarded by patients and should be considered by future patients to limit the morbidity of HS.

BACKGROUND The incidence of rare cutaneous malignancies is unknown. Current estimates of rare cutaneous malignancy incidences are based on broad epidemiologic data or single institution experiences, not population-based data. OBJECTIVE To determine the incidence of several rare nonmelanoma skin cancers. MATERIALS AND METHODS The authors conducted a retrospective chart review of a population-based cohort between the years 2000 and 2010. Residents of Olmsted County, Minnesota, who were diagnosed with a biopsy-proven nonmelanoma skin cancer—excluding basal cell carcinoma and squamous cell carcinoma—were included in this study. The primary outcome was tumor incidence. Additionally, the authors extracted patient demographics, tumor characteristics, treatment modalities, and outcomes. RESULTS The age-adjusted and sex-adjusted incidences per 100,000 persons of multiple rare cutaneous malignancies were: atypical fibroxanthoma (1.8), sebaceous carcinoma (0.8), dermatofibrosarcoma protuberans (0.4), microcystic adnexal carcinoma (0.7), eccrine carcinoma (0.4), eccrine porocarcinoma (0.2), and leiomyosarcoma (0.2). CONCLUSION The authors report population-based incidences and clinical characteristics for these rare cutaneous malignancies. The immune status and smoking status of patients and the treatment and outcomes of these tumors are reported. Additional studies in a broader population are needed to further define the epidemiology and outcomes of these malignancies.

OBJECTIVE Recently, 2 surgeon rating websites (Consumers' Checkbook and ProPublica) were published to allow the public to compare surgeons through identifying surgeon volume and complication rates. Among neurosurgeons and orthopedic surgeons, only cervical and lumbar spine, hip, and knee procedures were included in this assessment. METHODS The authors examined the methodology of each website to assess potential sources of inaccuracy. Each online tool was queried for reports on neurosurgeons specializing in spine surgery and orthopedic surgeons specializing in spine, hip, or knee surgery. Surgeons were chosen from top-ranked hospitals in the US, as recorded by a national consumer publication ranking system, within the fields of neurosurgery and orthopedic surgery. The results were compared for accuracy and surgeon representation, and the results of the 2 websites were also compared. RESULTS The methodology of each site was found to have opportunities for bias and limited risk adjustment. The end points assessed by each site were actually not complications, but proxies of complication occurrence. A search of 510 surgeons (401 orthopedic surgeons [79%] and 109 neurosurgeons [21%]) showed that only 28% and 56% of surgeons had data represented on Consumers' Checkbook and ProPublica, respectively. There was a significantly higher chance of finding surgeon data on ProPublica (p < 0.001). Of the surgeons from top-ranked programs with data available, 17% were quoted to have high complication rates, 13% with lower volume than other surgeons, and 79% had a 3-star out of 5-star rating. There was no significant correlation found between the number of stars a surgeon received on Consumers' Checkbook and his or her adjusted complication rate on ProPublica. CONCLUSIONS Both the Consumers' Checkbook and ProPublica websites have significant methodological issues. Neither site assessed complication occurrence, but rather readmissions or prolonged length of stay. Risk adjustment was limited or nonexistent. A substantial number of neurosurgeons and orthopedic surgeons from top-ranked hospitals have no ratings on either site, or have data that suggests they are low-volume surgeons or have higher complication rates. Consumers' Checkbook and ProPublica produced different results with little correlation between the 2 websites in how surgeons were graded. Given the significant methodological issues, incomplete data, and lack of appropriate risk stratification of patients, the featured websites may provide erroneous information to the public.