Citations

PURPOSE Germline CDH1 pathogenic variants (PV) are associated with hereditary diffuse gastric cancer and lobular breast cancer. Although prevalence of CDH1 PV is low in the general population, detection of these variants is increasing with the growing use of multigene panel testing. Little is known about the experiences of individuals tested for CDH1 variants in the multigene panel testing era. METHODS Participants recruited from the Prospective Registry of Multiplex Testing completed a cross-sectional self-report survey regarding CDH1 genetic testing experiences, medical management, and psychosocial adaptation. RESULTS Discordance existed in interpretations of CDH1 results; 13.3% of cases had disagreements in variant classifications among commercial laboratories, and 21.4% had disagreements between participant self-report and ClinVar classification. Survey data were available from 57 individuals reporting either PV (n = 16) or variants of uncertain significance (VUS; n = 41). Those with PV were more likely than those with VUS to report receiving a recommendation for prophylactic gastrectomy, although only 40.0% of those with PV received this recommendation. Participants with VUS were less satisfied with their health care providers’ knowledge and reported less CDH1 knowledge, distress, and worry about discrimination. Participants with PV perceived greater breast cancer risks, but similar gastric cancer risks, as those with VUS. CONCLUSION Few individuals with CDH1 PV report receiving recommendations for prophylactic gastrectomy, and no differences in perceived gastric cancer risk were observed based on participants’ CDH1 results, suggesting serious unmet informational needs.

Abstract Background : Although home parenteral nutrition (HPN) is lifesaving for patients with chronic intestinal failure (IF), long‐term use can be associated with complications such as infections, metabolic abnormalities, and IF–associated liver disease (IFALD). The key to treatment of many of these complications is prevention. Guidelines recommend avoidance of overfeeding, use of oral/enteral nutrition if possible, cyclic PN, and maintaining dose of soybean oil (SO) intravenous lipid emulsion (ILE) <1 g/kg/day as preventive strategies for IFALD. Additionally, with development of IFALD, ω‐6/ω‐3 polyunsaturated fatty acid ratio should be decreased in ILE. The newly available mixed‐oil (MO) ILE offers such an opportunity; however, there is a paucity of long‐term data available. Methods : The current study reports our long‐term experience with MO ILE use in HPN patients. Results : Seventeen patients (8 female and 9 male) with an average age of 47 ± 12 years and median HPN duration of 4.6 years (1.1–32.1 years) have utilized MO ILE for >12 months after being transitioned from SO ILE because of intolerance. Use of MO ILE allowed an increase in ILE energy from 8% ± 8% to 22% ± 8% while reducing dextrose energy from 66% ± 8% to 54% ± 5%, maintaining stability in alkaline phosphatase and triglyceride levels, and achieving improvement in aspartate aminotransferase, alanine aminotransferase, total bilirubin, and α‐tocopherol levels. Conclusion : In this HPN cohort with SO ILE intolerance, MO ILE was well tolerated and allowed an improvement in macronutrient composition while improving some liver parameters over a 12‐month period.

Study Design. Case–control analysis and systematic literature review. Objective. To illustrate the prognosis and perioperative risk factors associated with this condition. Summary of Background Data. Ischemic optic neuropathy (ION) is the most common pathological diagnosis underlying postoperative vision loss. It comes in two primary forms—anterior (AION)—affecting the optic disc or posterior (PION) affecting the optic nerve proximal to the disc. Spine surgery remains one of the largest sources of acute perioperative visual loss. Methods. We performed a 1:4 case–control analysis (by age and year of surgery) for patients with ION and those who didn’t develop ION following spine surgery at our institution. A systematic literature search of Medline, Embase, Scopus from inception to September 2017 as also performed. Results. We identified 12 cases from our institution. Comparison to 48 matched controls revealed fusion, higher number of operative levels, blood loss, and change in hemoglobin, hematocrit to be significantly associated with ION. Majority were diagnosed with PION (83%, 10/12) and had bilateral presentation (75%, 9/12). Only 30% patients (3/10) demonstrated improvement in visual acuity while the rest remained either unchanged (40%, 4/10) or worsened (20%, 2/10) at last follow-up. Literature review identified 182 cases from 42 studies. Posterior ischemic optic neuropathy (PION) was found in 58.7% (114/194) of cases, anterior ischemic optic neuropathy (AION) in 17% (33/19) and unspecified ION in 24% (47/194). PION was associated with higher odds of severe visual deficit at immediate presentation (odds ratio [OR]: 6.45, confidence interval [CI]: 1.04–54.3, P = 0.04) and last follow-up. Conclusion. PION is the most common cause of vision loss following spine surgery and causes more severe visual deficits compared with AION. Prone spine surgery especially multi-level fusions with longer operative time, higher blood loss, and intraoperative hypotension are most associated with the development of this devastating complication. Level of Evidence: 3

Background: Meniscal repair is desirable over resection to prevent postmeniscectomy arthritis, especially among young and active patients. However, long-term data are currently lacking following isolated meniscal repair, particularly in the pediatric population. Purpose/Hypothesis: To report long-term follow-up of isolated meniscal tears treated by meniscal repair in a pediatric and adolescent population and to compare those results with previous midterm follow-up data reported. The authors hypothesized that these patients would have satisfactory function and reoperation rates at long-term follow-up. Study Design: Case series; Level of evidence, 4. Methods: Forty-four patients aged ≤18 years undergoing repair of an isolated meniscal tear (without concomitant anterior cruciate ligament injury) between 1990 and 2005 were included. At the time of final follow-up, recurrent tear, reoperations, and International Knee Documentation Committee (IKDC) and Tegner scores were determined. With logistic regression, the overall failure among tear types was calculated. Wilcoxon rank sum analysis were performed to calculate the differences in clinical outcome for different time points, and Spearman coefficients were calculated for Tegner and IKDC with different variables. Results: At a mean follow-up of 17.6 years (range, 13.1-25.9 years), 32 patients with 33 isolated meniscal repairs (29 male, 3 female) with a mean age of 16.1 years (range, 9.9-18.7 years) at surgery were included in this study. At early follow-up, the overall failure rate was 14 of 33 (42%); complex tears (80%) and bucket-handle tears (47%) had higher overall failure rates when compared with simple tears (18.2%), although only complex tears had a significantly higher failure rate. However, no further failures occurred since midterm follow-up with any tear type. At final follow-up, the mean IKDC score was 92.3, which was significantly increased when compared with preoperative (65.3, P < .0001) and midterm (90.2, P = .01) scores. The mean Tegner score (6.5) was significantly lower than both preoperative (8.3, P < .0001) and midterm (8.4, P < .0001) scores. There was no difference in Tegner or IKDC score for patients with successful versus failed repair. Conclusion: In conclusion, while there was a high early failure rate, this study demonstrated overall good to excellent long-term clinical outcomes after isolated meniscal repair in an adolescent population, even for those requiring reoperation. Early failure and reoperation rates were variable, depending on tear type, with complex multiplanar tears having more failures at short-term follow-up. However, at long-term follow-up, IKDC and Tegner scores were not significantly different for those with complex tears as compared with other tear types.