Dupilumab-Associated Angioedema in an Adult: A Case Report of an Adverse Event and Literature Review.

Dupilumab is a monoclonal antibody that targets interleukin (IL)-4 and IL-13 for use in moderate to severe eczema, asthma, and nasal polyposis. Our case report presents a 47-year-old woman with a history of nasal polyposis who developed angioedema after being treated with dupilumab for recurrent polyposis. She tolerated her first dose of dupilumab without reaction, but 10 days after her second injection, she developed swelling of the lips and forehead. She was treated with steroids with partial resolution. She received two further doses, which followed similar courses before dupilumab was discontinued. To the best of the authors' knowledge, this is the first report of dupilumab-associated angioedema in an adult. This report may be instructional for prescribers providing patients with anticipatory guidance or evaluating otherwise unexplained angioedema.

Enhanced Recovery after Surgery Protocols Decrease Outpatient Opioid Use in Patients Undergoing Abdominally Based Microsurgical Breast Reconstruction.

BACKGROUND: Enhanced recovery after surgery (ERAS) protocols have known benefits in the inpatient setting, but little is known about their impact in the subsequent outpatient setting. On discharge, multimodal analgesia has been discontinued, nerve blocks and pain pumps have worn off, and patients enter a substantially different physical environment, potentially resulting in a rebound effect. The objective of this study was to investigate the effect of ERAS protocol implementation on outpatient opioid use and recovery. METHODS: Patients who underwent abdominally based microsurgical breast reconstruction before and after ERAS implementation were reviewed retrospectively. Ohio state law mandates that no more than 7 days of opioids may be prescribed at a time, with the details of all prescriptions recorded in a statewide reporting system, from which opioid use was determined. RESULTS: A total of 105 patients met inclusion criteria, of which 46 (44 percent) were in the pre-ERAS group and 59 (56 percent) were in the ERAS group. Total outpatient morphine milligram equivalents used in the ERAS group were less than in the pre-ERAS group (337.5 morphine milligram equivalents versus 668.8 morphine milligram equivalents, respectively; p =0.016). This difference was specifically significant at postoperative week 1 (p =0.044), with gradual convergence over subsequent weeks. Although opioid use was significantly less in the ERAS group, pain scores in the ERAS group were comparable to those in the pre-ERAS group. CONCLUSIONS: The benefits of ERAS protocols appear to extend into the outpatient setting, further supporting their use to facilitate recovery, and highlighting their potential role in helping to address the prescription opioid abuse problem. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

Instillation negative pressure wound therapy: An effective approach for hardware salvage.

Wound infection involving hardware can be notoriously difficult to treat, often requiring the removal of the infected implant. The goal of this study was to determine the utility of instillation negative pressure wound therapy to help eradicate infection and allow for definitive wound closure in patients without removing the infected hardware. A retrospective review was performed on the outcomes of 28 patients who presented with open wounds with exposed or infected hardware and who were treated with a combination of surgical debridement and negative pressure wound therapy with instillation (NPWTi). Eleven patients were treated for infected spinal hardware, 12 for extremity, and 5 for sternal hardware. Twenty-five of 28 (89%) patients had successful retention or replacement of hardware, with clearance of infection and healed wounds. Original hardware was maintained in 17 of 28 (61%) patients. In 11 patients, original hardware was removed, with subsequent replacement in eight of those patients after a clean wound was achieved. Average time to definitive closure was 12.6 days. Average follow-up was 135 days. This series supports NPWTi as an effective adjunct therapy to help expeditiously eradicate hardware infection, allowing for hardware retention.

Instillation Negative Pressure Wound Therapy: A Role for Infected LVAD Salvage.

Objective: To determine the utility of instillation negative pressure wound therapy (NPWT) in achieving eradication of infection and definitive wound closure in patients with infected left ventricular assist device (LVAD). Approach: A retrospective review was performed in a series of patients with infected and exposed LVADs who were treated with instillation NPWT in conjunction with surgical debridement. Results: Three consecutive patients were included who developed periprosthetic infection subsequent to LVAD implantation. In all cases, the utilization of a vacuum-assisted closure with instillation (VACi) along with surgical debridement and IV antibiotics eradicated infection resulting in successful retention of hardware. Cases 1 and 2 received definitive wound closure within 3 and 12 days of starting treatment, respectively. Case 3 initially deferred surgery in favor of local wound care. Eventually the patient elected for surgical treatment and underwent closure 164 days after initial presentation. All three patients healed completely without residual evidence of infection. Flap reconstruction with a pedicled rectus flap was used to achieve definitive closure in all patients. One patient subsequently required pump replacement secondary to thrombosis and mechanical pump failure. Innovation: LVAD infections are met with high morbidity and mortality rates, and timely salvage is critical. In this initial series, VACi has proven a viable therapy option to help control and eradicate infection without LVAD removal. Conclusion: This series illustrates the value of newer techniques such as VACi in combination with surgical debridement and antibiotic therapy in effectively salvaging LVADs that were infected.

Orbital Neuromas Associated With Chronic Inflammatory Demyelinating Polyneuropathy.

Chronic inflammatory demyelinating polyneuropathy is known to cause enlargement of the cranial nerves, particularly the trigeminal nerve. Several cases of orbital neuromas associated with this condition have been published, but surgical treatment has not been reported. The authors present a case of bilateral supraorbital neuromas associated with chronic inflammatory demyelinating polyneuropathy that underwent surgical excision and histopathologic examination.

Non-Lasered Drainage Retinotomies for Repair of Primary Rhegmatogenous Retinal Detachments.

BACKGROUND AND OBJECTIVE: Drainage retinotomies are a technique used for treating rhegmatogenous retinal detachments (RRDs). These retinotomies are commonly surrounded by barricade laser. This paper aims to evaluate operative success of non-lasered drainage retinotomies during 25-gauge pars plana vitrectomy (PPV) for repair of primary RRD. PATIENTS AND METHODS: Retrospective review of a consecutive interventional case series. Study includes 45 eyes of 45 patients who underwent 25-gauge PPV with a non-lasered drainage retinotomy for primary RRD. Eyes with previous retinal detachments or less than 3 months of follow-up were excluded. RESULTS: All PPV with non-lasered drainage retinotomies were carried out by one surgeon (RFI); 25-gauge PPV instrumentation, a wide-angle viewing system, endolaser photocoagulation, and air or sulfur hexafluoride gas tamponade were utilized for each eye. Single surgery anatomical success was achieved in 42 out of 45 eyes (93%). CONCLUSION: Retinal detachment repair utilizing non-lasered drainage retinotomies had a high anatomic success rate comparable to that of standard retinal detachment repair.1,2 [Ophthalmic Surg Lasers Imaging Retina. 2018;49:955-960.].

Waist-to-hip ratio is a better predictor than body mass index for morbidity in abdominally based breast reconstruction.

BACKGROUND: Body mass index is a universally recognized measure of obesity. However, it does not take body fat distribution (BFD) into account, which has been established as a significant risk factor in both medicine and surgery. The objective of this study was to compare previously developed anthropometric measures of BFD with body mass index in predicting morbidity with abdominally based microsurgical breast reconstruction. METHODS: A review of patients who underwent abdominally based breast reconstruction was performed. Multivariate logistic regression was performed to determine the relationship between complications (recipient, donor, total) with body mass index, waist circumference, waist-to-hip ratio, waist-to-height ratio, conicity index, and abdominal volume index. RESULTS: A total of 325 patients who underwent 442 flaps were analyzed. Waist circumference (OR, 1.16; 95% CI 1.07-1.76), waist-to-hip ratio (OR, 1.94; 95% CI 1.25-3.35), and waist-to-height ratio (OR, 1.19; 95% CI 1.01-1.70) were significant risk factors for recipient site complications. Body mass index (OR, 1.14; 95% CI 1.01-1.56), and waist-to-hip ratio (OR, 2.01; 95% CI 1.30-3.95) were significant risk factors for donor site complications. Waist-to-hip ratio (OR, 1.87; 95% CI 1.22-4.00) was the only measure found to be a significant risk factor for experiencing any complication. A waist-to-hip ratio >0.84 was associated with increased risk. CONCLUSIONS: Waist-to-hip ratio is a significant risk factor for recipient and donor site morbidity in abdominally based breast reconstruction. It is a readily calculable and clinically significant measure distinct from body mass index that should be considered for use in clinical care and research.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

This corrects the article DOI: 10.1038/ejhg.2017.59.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectrum have not been well defined. As phenotypic heterogeneity is common, we aimed to delineate the age-related penetrance and the full phenotypic spectrum of glaucoma in FOXC1 or PITX2 carriers recruited through a national disease registry. All coding exons of FOXC1 and PITX2 were directly sequenced and multiplex ligation-dependent probe amplification was performed to detect copy number variation. The cohort included 53 individuals from 24 families with disease-associated FOXC1 or PITX2 variants, including one individual diagnosed with primary congenital glaucoma and five with primary open-angle glaucoma. The overall prevalence of glaucoma was 58.5% and was similar for both genes (53.3% for FOXC1 vs 60.9% for PITX2, P=0.59), however, the median age at glaucoma diagnosis was significantly lower in FOXC1 (6.0±13.0 years) compared with PITX2 carriers (18.0±10.6 years, P=0.04). The penetrance at 10 years old was significantly lower in PITX2 than FOXC1 carriers (13.0% vs 42.9%, P=0.03) but became comparable at 25 years old (71.4% vs 57.7%, P=0.38). These findings have important implications for the genetic counselling of families affected by Axenfeld-Rieger syndrome, and also suggest that FOXC1 and PITX2 contribute to the genetic architecture of primary glaucoma subtypes.

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

BACKGROUND: Cataract is a major cause of childhood blindness worldwide. The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric cataract displaying variable phenotypes. CASE PRESENTATION: Fifty-one genes implicated in congenital cataract in human or mouse were sequenced in an affected individual from an Australian (Caucasian) family using a custom Ampliseq library on the Ion Torrent Personal Genome Machine. Reads were mapped against the human genome (hg19) and variants called with the Torrent Suite software. Variants were annotated to dbSNP 137 using Ion Reporter (IR 1.6.2) and were prioritised for validation if they were novel or rare and were predicted to be protein changing. We identified a previously reported oligomerization disrupting mutation, c.62G > A (p.R21Q), in the Crystallin alpha A (CRYAA) gene segregating in this three generation family. No other novel or rare coding mutations were detected in the known cataract genes sequenced. Microsatellite markers were used to compare the haplotypes between the family reported here and a previously published family with the same segregating mutation. Haplotype analysis indicated a potential common ancestry between the two South Australian families with this mutation. The work strengthens the genotype-phenotype correlations between this functional mutation in the crystallin alpha A (CRYAA) gene and paediatric cataract. CONCLUSION: The p.R21Q mutation is the most likely cause of paediatric cataract in this family. The recurrence of this mutation in paediatric cataract families is likely due to a familial relationship.