Mutations predicted to result in the loss of RECQL4 protein function occurred in approximately two-thirds of RTS patients and are associated with risk of osteosarcoma. Molecular diagnosis has the potential to identify those children with RTS who are at high risk of this cancer.

The healing process in diabetic foot ulcer (DFU) is hindered by factors such as chronic inflammation, defects in fibroblast function, poor angiogenesis, and lack of cell migration. Recombinant human epidermal growth factor (rhEGF) has been shown to enhance extracellular matrix formation, cellular proliferation, and angiogenesis. Therefore, intralesional application of rhEGF in DFU could accelerate wound healing. Our objective was to determine the efficacy and safety of rhEGF in patients with DFU. A randomized, double-blinded, placebo-controlled study was conducted comparing a thrice-per-week intralesional application of rhEGF (75 μg) or placebo in patients with DFU for 8 weeks. The number of completely healed ulcers, size, and wound bed characteristics were evaluated to determine the efficacy of rhEGF. Adverse events were recorded and analyzed to establish its safety. A total of 34 patients were recruited for the study. After three dropouts, we were able to follow and analyze 16 patients in the placebo group and 15 patients in the rhEGF study to the end of the trial. Baseline testing showed that both groups were similar. Compared to the placebo group, more ulcers achieved complete healing in the rhEGF group (rhEGF, n = 4; placebo, n = 0; p = 0.033); ulcers in the rhEGF group decreased in area size (12.5 cm2 [rhEGF] vs. 5.2 cm2 [placebo]; p = 0.049); and more epithelial islands in the wound bed were present (28% vs. 3%; p = 0.025). Mild transitory dizziness was the only side effect that was more frequently noted in the rhEGF group. Our results showed that in patients with DFU who received standard care, intralesional rhEGF application resulted in complete healing in more patients, promoted the epithelialization of the wound bed, and significantly reduced the area of the DFU treated. Therefore, rhEGF resulted in better outcomes for patients suffering from DFU.

Telemedicine (TM) is a new, rapidly evolving area and can be of great value in the provision of healthcare to remote and rural populations. Wound healing and wound management are prime candidates for TM. The treatment of skin ulcers requires frequent assessments of local wound status and adjustment of therapy. The availability of reasonably priced photographic equipment and quick electronic transfer of high-quality digital images should make the assessment of wound status by remote experts possible. Several studies showing the feasibility and the usefulness of teleconsultations in dermatology have already been described in the literature, and high accordance for diagnosis and treatment between face-to-face visits and teleconsultations has been reported. Some used digital photographs and sent the image and clinical data via the Internet to a wound care specialist (store and forward), whereas others used a webcam (televideoconferencing). Tele-wound care offers great potential for the future in chronic wound care. By reducing the need to travel long distances to the hospital or to consult with a physician, TM decreases the costs and improves the quality of life for patients with chronic wounds, while still maintaining high standards of wound care. The intent of TM is to reduce, in a clinically equivalent way, the number of visits to a specialized clinic, but not necessarily to eliminate all visits. Further well-designed research is necessary to understand how best to deploy TM services in healthcare.

Background The larvae of the botfly Dermatobia hominis cause furunculoid myiasis in endemic areas. Lack of knowledge of this condition outside these areas leads to confusion in diagnosis and delays appropriate treatment. Objective To describe the clinical findings of furunculoid myiasis encountered in Quintana Roo, in the south-east of Mexico. Materials and methodsWe performed an observational study on 25 cases diagnosed over a period of 4 years.Results Diagnosis of furunculoid myiasis was made in 14 males and 11 females with an average age of 24.5 years. Most of our patients were students, farmers, or housewives. The number of lesions varied from one to four. In 20% of cases, more than one parasite was present in each lesion. The scalp was the most commonly affected region (40%), followed by the trunk and the extremities. Doppler ultrasound study (DUSG) of the furuncle-like lesions confirmed the clinical diagnosis in all cases.Conclusions Furunculoid myiasis is frequent in the state of Quintana Roo, Mexico. We found no association with occupation, gender, social background or age. DUSG can be used to evaluate the number of parasites per furunculoid lesion avoiding misdiagnoses and treatment delays.