Sustainability Comes to Life. Nature-Based Adventure Tourism in Norway.

This paper investigates how tourists and guides perform sustainability during adventure tourism trips in natural environments. The paper draws on empirical data from an ethnographic study of five different multi-day trips in Norway, each of which used skiing, hiking, or biking as the mode of travel. In our analysis, we focus on how the different actors understood, operationalized and practiced elements of sustainability in their everyday lives while on the trips. The paper applies a micro-sociological perspective to the nature-based adventure tourism scene where the interplay between tourists, guides, adventure activities and nature is understood as multiple dialectic performances co-produced by the different actors. Goffman's dramaturgical metaphors, and concepts of frames, appearance, and manner saturate recent research on tourism and nature guiding. This paper builds on the "performance turn" as a theoretical point of departure for understanding sustainability in nature-based adventure tourism experiences. In participant observations and post-trip interviews with Norwegian and international tourists and their guides, we found that sustainability performances were not a major aspect of the trips. We did find some performances of mainly "light" sustainability and, among them, elements of ambivalence and ambiguity. Our data indicate that some guides tread a fine line between enhancing and deepening tourists' experiences of nature and sustainability or negatively impacting the perceived enjoyment imperative of the trip. International tourists expressed deeper sustainability overall. We reflect on the relative explanatory strengths of Goffman's "frames" and interaction order, and Persson's "framing," for understanding the interplay between guide and tourist sustainability performances and conclude with pointers for teasing out the complexities we identify.

Perspectives of Patients With Dermatofibrosarcoma Protuberans on Diagnostic Delays, Surgical Outcomes, and Nonprotuberance.

Importance: Dermatofibrosarcoma protuberans (DFSP) may have a deceptively benign clinical appearance, including a nonprotuberant presentation. Patients with DFSP often perceive misdiagnoses and delays in receiving a diagnosis. Use of existing, patient-designed Facebook patient support groups (FBSGs) to recruit large numbers of patients with rare diseases may be an effective novel research method. Objectives: To collaborate with patients with rare disease through social media and answer questions important to both patients and the medical field, including sources of diagnostic delay, risk of recurrence, and flat presentation of DFSP. Design, Setting, and Participants: A multiple-choice survey created by a team of medical practitioners and patients with DFSP was administered to 214 patients with DFSP or family members from international DFSP FBSGs and a nonprofit foundation patient database via Lime Survey from October 30 to November 20, 2015. The survey asked questions designed to determine risk of recurrence and metastasis, surgical outcomes, sources of diagnostic delay, symptoms of recurrence, number of recurrences, scar size, and number of clinicians seen before biopsy. Statistical analysis was performed from January 1, 2016, to April 1, 2019. Main Outcomes and Measures: The study goal was to collect at least 200 survey responses. Results: Of 214 survey respondents (169 females and 45 males; mean [SD] age, 40.7 [12.1] years; range, <1 to 72 years), 199 were patients with DFSP and 15 were family members. Delays occurred between the patient noticing the DFSP lesion and receiving a diagnosis of DFSP (median, 4 years; range, <1 to 42 years). Most patients (112 [52.3%]) believed that they received a misdiagnosis at some point: by dermatologists (35 of 107 [32.7%]), primary care clinicians (80 of 107 [74.8%]), or another type of physician (27 of 107 [25.2%]). The most frequent prebiopsy clinical suspicion included cyst (101 [47.2%]), lipoma (30 [14.0%]), and scar (17 [7.9%]). Many patients first noticed their DFSP as a flat plaque (87 of 194 [44.8%]). Of these lesions, 73.6% (64 of 87) became protuberant eventually. Surgical treatments included Mohs micrographic surgery (56 of 194 [28.9%]), wide local excision (122 of 194 [62.9%]), and conservative excision (16 of 194 [8.2%]). The reported rate of recurrence was 5.4% (3 of 56) for Mohs micrographic surgery, 7.4% (9 of 122) for wide local excision, and 37.5% (6 of 16) for conservative excision. The higher rate of recurrence for conservative excision was significant (P = .001); there was no significant difference in the rate of recurrence between Mohs micrographic surgery and wide local excision (P = .76). Conclusions and Relevance: This study reports what appears to be disease-relevant statistics from the largest survey of patients with DFSP to date. Because of the dissonance between the name of the neoplasm and its clinical presentation, the alternative term dermatofibrosarcoma, often protuberant is proposed. This study suggests that FBSGs are useful tools in medical research, providing rapid access to large numbers of patients with rare diseases and enabling synergistic collaborations between patients and medical researchers.

Impact of MYH6 variants in hypoplastic left heart syndrome.

Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown. The goal of this study was to characterize a risk gene in HLHS and its effect on HLHS etiology and outcome. We performed next-generation sequencing on a multigenerational family with a high prevalence of CHD/HLHS, identifying a rare variant in the α-myosin heavy chain (MYH6) gene. A case-control study of 190 unrelated HLHS subjects was then performed and compared with the 1000 Genomes Project. Damaging MYH6 variants, including novel, missense, in-frame deletion, premature stop, de novo, and compound heterozygous variants, were significantly enriched in HLHS cases (P < 1 × 10-5). Clinical outcomes analysis showed reduced transplant-free survival in HLHS subjects with damaging MYH6 variants (P < 1 × 10-2). Transcriptome and protein expression analyses with cardiac tissue revealed differential expression of cardiac contractility genes, notably upregulation of the ß-myosin heavy chain (MYH7) gene in subjects with MYH6 variants (P < 1 × 10-3). We subsequently used patient-specific induced pluripotent stem cells (iPSCs) to model HLHS in vitro. Early stages of in vitro cardiomyogenesis in iPSCs derived from two unrelated HLHS families mimicked the increased expression of MYH7 observed in vivo (P < 1 × 10-2), while revealing defective cardiomyogenic differentiation. Rare, damaging variants in MYH6 are enriched in HLHS, affect molecular expression of contractility genes, and are predictive of poor outcome. These findings indicate that the etiology of MYH6-associated HLHS can be informed using iPSCs and suggest utility in future clinical applications.

An Unusual Case of Severe Stenosis of the Coronary Sinus Ostium in Association With Double Inlet Left Ventricle.

We present a patient with complex single ventricle physiology who was subsequently diagnosed with atresia of the coronary sinus ostium in the setting of myocardial dysfunction following operative palliation. Although a rare cardiac defect, awareness is important as the coronary venous system will often drain to a left superior vena cava (LSVC). If the LSVC is ligated without knowing of this defect, cardiac dysfunction and death can occur.

[Rib span-plasty in sequestered osteomyelitis of the femoral diaphysis]. / Rippenspanplastik bei sequestrierender Osteomyelitis der Femurdiaphyse.

A case is reported of a 6-year-old boy with acute pyogenic osteomyelitis. A delay in making the diagnosis or inadequate early treatment led to chronic osteomyelitis. A delay in making a diagnosis is the most important factor in the prognosis of acute osteomyelitis. Sophisticated techniques are only indicated to detect and confirm the nature of the lesion, but they should not delay identification of the causative organisms. In our case, the diagnosis was delayed, and there was complete sequestration of the femur shaft as a result of insufficient early treatment. After diagnosis, the initial step was surgical debridement. After complete necrotomy, continuous irrigation with suction drainage was begun. To fill the defect and accelerate bone reconstruction, we performed an autogenous graft taking the 8th rib and splitting it into nine fragments. After identification of Pseudomonas aeruginosa as the causative organism, parenteral antibiotic therapy was begun and maintained. Nine weeks after admission, the boy was able to leave the hospital. Ten weeks later he was examined in the outpatient clinic and was walking and running quite normally. To date, there has been no recurrence of the infection.

[Indication and risk of internal intestinal splinting. Comments and supplement to the published article of W. Kapral: Splinting of the small intestine with the Miller-Abbot tube. Chirurg (1984) 55:394]. / Indikation und Risiko der inneren Darmschienung. Kommentar und Ergänzung zur Veröffentlichung von W. Kapral: Die Schienung des Dünndarms mit der Miller-Abbot-Sonde.

The usefulness of splinting of the bowel to prevent recurrent bowel obstruction caused by adhesions is analysed. For that is differentiated between three possible indication groups: 1. late bowel obstruction, 2. early postoperative bowel obstruction, 3. mixed peritonitic and mechanical ileus. The risk of splinting of the bowel can only be seen in relation to the number of recurrences, complications and mortality rates as seen in the three indication groups, treated without splinting. From that it shows that in case of peritonitis splinting can only be an adjuvant measure of therapy, and that in case of both recurrent late bowel obstruction and early postoperative bowel obstruction splinting of the bowel has a real preventive effect. This differentiation in indication is of no importance in childhood.