An unusual case of pediatric embryonal rhabdomyosarcoma with subsequent diagnosis of neurofibromatosis type 1.

A 10-month-old girl presented with a 4-month history of a rapidly growing lesion on the lower lip. Initial assessment and Doppler ultrasound supported a diagnosis of pyogenic granuloma. However, emergent biopsy revealed an embryonal rhabdomyosarcoma, a highly malignant tumor commonly associated with cancer-susceptible syndromes including neurofibromatosis type 1 (NF1). Despite having no apparent clinical features of NF1 at initial presentation, she was later found to have multiple café-au-lait spots and a subsequent diagnosis of NF1 was made.

Pediatric Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Halted by Etanercept.

We report a case of an 11-year-old female with Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) overlap, most likely triggered by sulfamethoxazole-trimethoprim, who was treated with the combination of methylprednisolone, cyclosporine, and etanercept. Her condition stabilized and her skin involvement did not progress after the addition of etanercept. To our knowledge, this is the first report of etanercept for pediatric SJS/TEN.

Contact Cryoprobe Sterilization Practices: A Patient Quality and Safety Issue for Dermatologists.

BACKGROUND: Cryotherapy is a commonly employed treatment modality in dermatology. There is literature to suggest that sterilization of the contact cryotherapy probe is needed for proper decontamination. OBJECTIVE: To determine the status on the usage and sterilization methods employed by dermatology staff and residents affiliated with an academic training centre in Ontario, Canada, with the overall goal of improving patient safety. METHODS: An anonymous qualitative survey was conducted and analyzed. RESULTS: The survey had a response rate of 71% (n=34 of 48); 11 of 34 physicians reported using contact cryoprobes in their practice to treat viral infections, benign tumours, and malignant tumours. Out of the 11 using contact cryoprobes, 3 (27%) employed any type of cleaning method between patients. CONCLUSIONS: Current use of contact cryotherapy probes could be improved for safety considerations. Patient safety may be enhanced by the incorporation of routine autoclaving or other recommended decontamination methods of contact cryotherapy probes between patients.

Acute rhabdomyolysis as a complication of interferon treatment for stage IIIc melanoma.

BACKGROUND: Interferon alfa-2b is a treatment option for select patients with stage 3 melanoma. OBJECTIVE: To highlight the potential complication of acute rhabdomyolysis from interferon alfa-2b in this patient population. METHODS: We present a case of a 63-year-old female with stage IIIc melanoma who developed acute rhabdomyolysis after completing 2 of 4 weeks of induction with high-dose interferon alfa-2b. She recovered after hydration with intravenous fluids and discontinuation of interferon alfa-2b. RESULTS: Review of the literature revealed eight cases of reported rhabdomyolysis triggered by interferon use, including four cases of melanoma. CONCLUSION: In patients treated with interferon, especially at high doses, screening for creatine kinase and myoglobinuria should be performed if the patient develops symptoms suggestive of acute rhabdomyolysis.

The prophylactic use of C1 inhibitor in hereditary angioedema patients undergoing invasive surgical procedures: a retrospective study.

BACKGROUND: Hereditary Angioedema (HAE) is a rare autosomal dominant condition characterized by episodic angioedema, which may be triggered by invasive procedures and surgery. C1 inhibitor (C1 INH) was approved in the United States and Canada in 2009 and 2010, respectively, for the treatment of acute attacks. Most recently in April 2013, it was approved in Europe for short-term prophylaxis (STP), prior to medical, dental, or surgical procedures, to prevent HAE attacks in both children and adults. Currently, C1 INH is not approved in Canada or the United States for STP of HAE attacks. Our objective was to demonstrate the effectiveness of C1 INH as a short-term prophylactic treatment for patients with Type I HAE undergoing invasive surgical procedures. METHODS: A retrospective chart review between 1997-2013 was performed at one Canadian Tertiary Care Allergy and Asthma Clinic affiliated with The Ottawa Hospital, in Ottawa, Canada. The standard dose of C1 INH for STP was 10 or 20 U/kg. RESULTS: In all 24 procedures, there were no post-procedure HAE attacks after short-term prophylactic administration of C1 INH. CONCLUSIONS: In this retrospective chart review at one tertiary care Allergy and Clinical Immunology Clinic, short-term prophylactic use of C1 INH was found to be effective at preventing post-procedure HAE attacks, in patients diagnosed with Type I HAE.

Allergic contact dermatitis from dimethyl fumarate after contact with a Chinese sofa.

BACKGROUND: Dimethyl fumarate has been successfully used in the treatment of psoriasis in the past. Despite its clinical use, cutaneous contact with this molecule may cause contact dermatitis. OBJECTIVE: We report a case in which skin exposure to a synthetic fabric sofa containing dimethyl fumarate made by a Chinese furniture manufacturer resulted in a severe, pruritic, papulovesicular, eczematous dermatitis to the sites of contact with the sofa. METHODS: The patient was patch-tested with serial dilutions of dimethyl fumarate. RESULTS: Patch testing results revealed strong positive reactions to dimethyl fumarate at different concentrations. CONCLUSION: Dimethyl fumarate is a potent contact sensitizer and is commonly found in sachets inside furniture and footwear boxes.

An automated system for delivery of an unstable transcription factor to hematopoietic stem cell cultures.

An automated delivery system for cell culture applications would permit studying more complex culture strategies and simplify measures taken to expose cells to unstable molecules. We are interested in understanding how intracellular TAT-HOXB4 protein concentration affects hematopoietic stem cell (HSC) fate; however, current manual dosing strategies of this unstable protein are labor intensive and produce wide concentration ranges which may not promote optimal growth. In this study we describe a programmable automated delivery system that was designed to integrate into a clinically relevant, single-use, closed-system bioprocess and facilitate transcription factor delivery studies. The development of a reporter cell assay allowed for kinetic studies to determine the intracellular (1.4 +/- 0.2 h) and extracellular (3.7 +/- 1.8 h and 78 +/- 27 h at 37 degrees C and 4 degrees C, respectively) half-lives of TAT-HOXB4 activity. These kinetic parameters were incorporated into a mathematical model, which was used to predict the dynamic intracellular concentration of TAT-HOXB4 and optimize the delivery of the protein. The automated system was validated for primary cell culture using human peripheral blood patient samples. Significant expansion of human primitive progenitor cells was obtained upon addition of TAT-HOXB4 without user intervention. The delivery system is thus capable of being used as a clinically relevant tool for the exploration and optimization of temporally sensitive stem cell culture systems.