Photodynamic Therapy for Basal Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa

A 22-year-old male with recessive dystrophic epidermolysis bullosa with a large superficial and nodular basal cell carcinoma on his right forehead was treated with photodynamic therapy. The treatment was well tolerated, and the site healed well. Patients with epidermolysis bullosa are at increased risk of developing skin cancers, particularly squamous cell carcinomas. However, basal cell carcinomas are rare in recessive dystrophic epidermolysis bullosa. As patients with epidermolysis bullosa have recurrent blistering and poor wound healing, surgery may not be the optimal choice in treating skin cancers. We present this case to highlight that photodynamic therapy may be a helpful and safe technique in the treatment of superficial skin cancers in patients with epidermolysis bullosa, as an alternative to more radical methods

Porphyria Cutanea Tarda (PCT) experience in Victoria, Australia

BackgroundPorphyria Cutanea Tarda (PCT) is a metabolic disorder resulting from a deficiency of hepatic enzyme uroporphyrinogen decarboxylase (UROD). UROD deficiency results in the accumulation of porphyrins, which are phototoxic and hepatotoxic. PCT patients are at increased risk of developing hepatocellular carcinoma.AimsTo describe a series of PCT patients presenting to a tertiary center over 35-year period from the 1980s to December 2015 and review current literature to date on PCT, with a focus on PCT management.MethodsA search of the center’s dermatology department and biochemistry database were performed to identify patients diagnosed with PCT. Demographic data, underlying risk factors and management details were obtained. Statistical tests were performed to identify any possible association between the variables of interest.Results34 patients were included in this study. Mean age of diagnosis was 48 years and there was no gender difference. 12 patients had Hepatitis C infection, 25 had excessive alcohol consumption, 13 had hereditary haemochromatosis. Eight patients developed oestrogen-associated or hormonal replacement therapy (HRT) induced PCT. 33 patients (97 per cent) responded to venesection. Six (18 per cent) patients were prescribed hydroxychloroquine, either alone or concurrently with venesection. They all achieved remission. Average duration of follow up is 13 years. One patient developed hepatocellular carcinoma (HCC).ConclusionOur study has reinforced venesection as an effective treatment for PCT. Low dose hydroxychloroquine can be used in patients where venesection is contraindicated or not tolerated. General measures such as alcohol abstinence, visible violet light protection and trauma avoidance are recommended

Oedema of the metatarsal heads II-IV and forefoot pain as an unusual manifestation of Lyme disease: a case report

We report the case of a healthy 36 year old man who suffered from foot pain lasting for weeks, without having a specific medical history relating to it. The clinical evaluation was interpreted as a transfer metatarsalgia caused by a splayfoot. The radiographs revealed no pathology except the splayfoot deformity. Due to persistent pain and swelling of the entire forefoot, after two weeks of conventional treatment, magnet resonance images (MRI) and a blood sample were taken. The laboratory investigation showed raised levels of white blood cell count and C-reactive protein. The MRI showed up oedema in the metatarsal heads II-IV, as well as soft tissue swelling of the forefoot without any signs of decomposition

The COVID-19 pandemic and environmental health: Lessons learned

Environmental health is historically an overlooked and underrated discipline. The COVID-19 pandemic highlighted the value of environmental health and environmental health professionals (EHPs). EHPs have a unique set of skills and knowledge that were, or could have been, signifi cant in controlling the pandemic. This skill set includes a thorough understanding of legislation and regulations; the ability to conduct human health risk assessment and implement effective risk-control measures; enforcement, communication, and education skills; and a signifi cant understanding of their own local communities. The opportunities for applying the skills of EHPs vary across the world depending on several factors, including legislative and regulatory frameworks in each jurisdiction. Here we present our early evaluation of the unique skills and knowledge base of EHPs and lessons that can be learned from EHP engagement in public health protection. We also argue that local knowledge and engagement need to be recognized as valuable tools in emergency preparedness. In our increasingly globalized world, mechanisms to maintain and value local knowledge are needed, which could be achieved by embedding the “value of local” into policy to ensure that the importance and value of local knowledge are captured. We also advocate for raising awareness of the value of public health, and specifi cally, environmental health.info:eu-repo/semantics/publishedVersio

Interdisciplinary Research Collaborative Trains Students to See Through Turbulent Systems

Despite the availability of interdisciplinary academic training programs, the practice of environmental science is often hampered by a lack of convergence across diverse disciplines. This gap is particularly salient in settings characterized by complex environmental issues, such as multiple-use coastal ecosystems. In response, we developed and implemented a training, research, and communication framework to provide undergraduates with an authentic operative experience working at the interface of interdisciplinary science and public decision-making within a case study of marine renewable energy. In our program, students gained hands-on experience with the scientific process and learned how to make information relevant, useful, and accessible to diverse stakeholder groups. Application of this framework demonstrates that the process of integrating data from biological (visual and acoustic monitoring of fish and marine mammals), physical (hydrodynamics), and social (local ecological knowledge) sciences can provide a more complete understanding of complex and turbulent ecosystems for better informed decision-making. We offer several recommendations to facilitate the adaptation and implementation of our interdisciplinary framework to diverse research contexts, with a focus on interdisciplinary training for the next generation of marine scientists

Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial

Background & Aims: Acute hepatic porphyria (AHP) is caused by defects in hepatic heme biosynthesis, leading to disabling acute neurovisceral attacks and chronic symptoms. In ENVISION (NCT03338816), givosiran treatment for 6 months reduced attacks and other disease manifestations, compared with placebo. Here we report data from the 36-month final analysis of ENVISION. Methods: Ninety-four patients with AHP (age ≥12 years) and recurrent attacks were randomized 1:1 to monthly double-blind subcutaneous givosiran 2.5 mg/kg (N=48) or placebo (N=46) for 6 months. In the open-label extension (OLE) period, 93 patients received givosiran 2.5 or 1.25 mg/kg for 6 months or more before transitioning to 2.5 mg/kg. Endpoints were exploratory unless otherwise noted. Results: During givosiran treatment, median annualized attack rate (AAR) was 0.4. Through Month 36, annualized days of hemin use remained low in the continuous givosiran group (median, 0.0 to 0.4) and decreased in the placebo crossover group (16.2 to 0.4). At end of OLE, in the continuous givosiran and placebo crossover groups, 86% and 92%, respectively, had 0 attacks. AAR was lower than historical AAR in 98% and 100%, respectively (post hoc analysis), and there were 0 days of hemin use in 88% and 90%, respectively. The 12-item Short Form Health Survey physical and mental component scores increased by 8.6 and 8.1, respectively (continuous givosiran) and 9.4 and 3.2, respectively (placebo crossover). EQ-5D health-related questionnaire scores increased by 18.9 (continuous givosiran) and 9.9 (placebo crossover). Lowering of urinary delta-aminolevulinic acid and porphobilinogen levels was sustained. Safety findings demonstrated a continued positive risk/benefit profile for givosiran

Treatment of Septic arthritis of the coxofemoral joint in 12 foals

Objective: To describe the clinical signs, surgical treatment, and outcome of septic arthritis of the coxofemoral joint in foals. Study Design: Retrospective clinical study. Sample Population: Foals (n = 12) with confirmed sepsis of the coxofemoral joint. Methods: Lameness was localized to the coxofemoral joint based on physical examination. Sepsis was confirmed by cytological analysis of synovial fluid obtained under ultrasonographic guidance, during general anesthesia or standing sedation. Intra-articular analgesia was used as an adjunct diagnostic modality in 2 foals. Surgical lavage of the affected joint was performed via arthroscopy or needle lavage, with repeated lavage performed in 7 foals. Results: Synovial fluid contained 4.4 to 173 × 109/L white blood cells (WBCs), and 38-63 g/L total protein. Cultures were positive in 10/12 foals. Isolated organisms included Salmonella spp., Streptococcus spp., Rhodococcus spp., Enterococcus spp., Escherichia spp., Staphylococcus spp., Acinetobacter spp., Methicillin-resistant Staphylococcus aureus and Bacillus spp. Ten foals were discharged from hospital (83%). One of these was euthanized 15 days later due to chronic intestinal salmonellosis and renal failure, and 9 foals survived with no residual lameness detected 1 year after discharge from hospital. Conclusions: Sepsis of the coxofermoral joint can be effectively treated with a combination of arthroscopic lavage and the use of systemic and local antimicrobials

Social stigma and executive compensation

We document that executives working at firms perceived negatively in light of social norms, such as tobacco, gambling and alcohol, earn a significant compensation premium. The premium compensates for personal costs executives bear due to their employer’s negative public perception and include: (i) a reduced likelihood these CEOs will serve as directors on other firms’ boards, which associates with lower executives’ social status, and (ii) impaired job mobility as employers shun stigmatized executives. The compensation premium is not explained by higher managerial skill required in firms we investigate, higher employment contract risk, political capital, litigation risk, or differences in corporate governance quality, and robust to endogeneity concerns. Our results highlight the significant impact job-related social stigma has on executive compensation

Conspicuous consumption of the elite: Social and self-congruity in tourism choices

This paper relies on social and economic psychology to explore how the travel choices of Portuguese citizens, with different status levels in their daily lives, perceive and adopt different conspicuous travel patterns because of public exposure. To account for the moderated role of public exposure on conspicuous travel patterns, 36 Portuguese citizens were interviewed. Q-methods were applied to explore the varying senses of conspicuous travel choices among citizens with different levels of public exposure, both individually and relative to each other. Complementary qualitative methods were applied, in order to explore how the interviewees construct tourism conspicuous meanings that match their social or self-representations. The results suggest that social contexts moderate the ways in which individuals perceive and experience conspicuous travel. Further, the results show that public groups with higher exposure tend to prefer subtle signals of conspicuousness, in order to differentiate themselves from the mainstream

Functional Analysis of Conserved Non-Coding Regions Around the Short Stature hox Gene (shox) in Whole Zebrafish Embryos

Background: Mutations in the SHOX gene are responsible for Leri-Weill Dyschondrosteosis, a disorder characterised by mesomelic limb shortening. Recent investigations into regulatory elements surrounding SHOX have shown that deletions of conserved non-coding elements (CNEs) downstream of the SHOX gene produce a phenotype indistinguishable from Leri-Weill Dyschondrosteosis. As this gene is not found in rodents, we used zebrafish as a model to characterise the expression pattern of the shox gene across the whole embryo and characterise the enhancer domains of different CNEs associated with this gene. Methodology/Principal Findings: Expression of the shox gene in zebrafish was identified using in situ hybridization, with embryos showing expression in the blood, putative heart, hatching gland, brain pharyngeal arch, olfactory epithelium, and fin bud apical ectodermal ridge. By identifying sequences showing 65% identity over at least 40 nucleotides between Fugu, human, dog and opossum we uncovered 35 CNEs around the shox gene. These CNEs were compared with CNEs previously discovered by Sabherwal et al. ,resulting in the identification of smaller more deeply conserved sub-sequence. Sabherwal et al.’s CNEs were assayed for regulatory function in whole zebrafish embryos resulting in the identification of additional tissues under the regulatory control of these CNEs. Conclusion/Significance: Our results using whole zebrafish embryos have provided a more comprehensive picture of the expression pattern of the shox gene, and a better understanding of its regulation via deeply conserved noncoding elements. In particular, we identify additional tissues under the regulatory control of previously identified SHOX CNEs. We also demonstrate the importance of these CNEs in evolution by identifying duplicated shox CNEs and more deeply conserved sub-sequences within already identified CNEs