Introduction Melanoma origin has always been a debated subject, as well as the role of adjacent melanocytic nevi. Epidemiological and histopathological studies point to melanomas arising either de novo or from a nevus. Methods Sixty-one melanomas found in association with a preexisting nevus were microdissected, after careful selection of cell subpopulations and submitted to Sanger sequencing of the BRAF, NRAS, C-KIT, PPP6C, STK19 and RAC1 genes. Each gene was evaluated twice in all samples by sequencing or by sequencing and another confirmation method, allele-specific fluorescent polymerase chain reaction (PCR) and capillary electrophoresis detection, or by SNaPshot Analysis. Only mutations confirmed via two different molecular methods or twice by sequencing were considered positive. Results The majority of cases presented concordance of mutational status between melanoma and the associated nevus for all 6 genes (40/60; 66.7%). Nine cases presented concomitant BRAF and NRAS mutations, including one case, in which both the melanoma and the adjacent nevus harbored V600E and Q61K double mutations. In two cases, both melanoma and associated nevus, located on acral sites were BRAF mutated, including an acral lentiginous melanoma. Conclusions This is the largest nevus-associated melanoma series molecularly evaluated to our knowledge. The majority of melanomas and adjacent nevi in our sample share the same mutational profile, corroborating the theory that the adjacent nevus and melanoma are clonally related and that melanoma originated within a nevus.
Unilateral peripheral facial nerve palsy jeopardizes quality of life, rendering psychological consequences such as low self-esteem, social isolation, anxiety, and depression. Among therapeutical approaches, use of Botulinum toxin type A (BoNT-A) on the nonparalyzed side has shown promising results and improvement of quality of life. Nevertheless, the correct technique is paramount, since over-injection of the muscles can result in lack of function, leading to a “paralyzed” appearance, and even worse, functional incompetence, which may cause greater distress to patients. Therefore, the objective of this article is to provide a practical guideline for botulinum toxin use in facial palsy. To this aim, adequate patient assessment, BoNT-A choice, injection plan and dosage, and injection techniques are covered.
The aim of this study was to evaluate the practical importance of the presence of shiny white streaks (SWS) (chrysalis or crystalline structures in polarized dermoscopy) for suspicion of malignancy, diagnosis of melanoma, and pre-operative estimation of Breslow thickness and its correlation with total dermoscopy score (TDS). SWS were present in 13.6% of 800 consecutive excised lesions. The presence of SWS was associated with malignancy (odds ratio (OR) 10.534, 95% confidence interval (95% CI) 6.357-17.455, p < 0.0005) in the context of melanocytic lesions with invasive melanoma (OR 10.333, 95% CI 3.812-28.014) and melanomas with high TDS (OR 6.286, 95% CI 1.673-23.619), but was also a factor in the diagnosis of featureless and some thin melanomas. These results corroborate the clinical applicability of SWS in aiding the diagnosis of malignancy and helping to raise the general dermatologist's awareness in cases of doubt and featureless lesions.
In order to determine dermoscopic parameters, a case-control test set of naevus-associated melanomas vs de novo melanomas paired by Breslow thickness and histopathological subtype was analysed by 2 blinded experienced dermoscopists, according to presence of naevus, pattern analysis and ABCD dermoscopy score. The ability to identify naevus-associated melanomas by pattern analysis was low for both blinded dermoscopists (κ < 0.2). Dermoscopy features associated with naevus-associated melanomas were: presence of negative pigment network (OR 9.915, CI 95% 2.182-45.049), globules (OR 2.383, CI 95% 1.15-4.95) and streaks (OR 2.439, CI 95% 1.271-4.680). In contrast, the presence of blue-white veil was related to absence of associated naevus (OR 0.520, CI 95% 0.273-0.991). With the results obtained, 2 different algorithms were proposed. The use of the proposed algorithms could help raise awareness of naevus-associated melanomas and avoid the possibility of incorrectly diagnosing a naevus-associated melanoma if partial biopsies are performed.
Nevus-associated melanomas, which represent one-third of the melanomas in southeast Brazil, are associated with intermittent sun exposure, superficial spreading melanomas, and lower Breslow thickness. This is one of the largest series describing nevus-associated melanomas in Latin America.
Background According to the Latin America Association for palliative care, Brazil offers only 0.48 palliative care services per 1 million inhabitants. In 2012, no accredited physicians were working in palliative care, while only 1.1% of medical schools included palliative care education in their undergraduate curricula. As a reflection of the current scenario, little research about end-of-life care has been published so that studies addressing this subject in the Brazilian setting are crucial. Methods A cross-sectional study study conducted with students applying for the medical residency of the Federal University of São Paulo were invited to voluntarily participate in an anonymous and self-administered questionnaire survey. The latter included demographic information, attitudes, prior training in end-of-life care, prior end-of-life care experience, the 20-item Palliative Care Knowledge Test (PCKT) and a consent term. Results Of the 3086 subjects applying for residency, 2349 (76%) answered the survey, 2225 were eligible for analysis while 124 were excluded due to incomplete data. Although the majority (99,2%) thought it was important to have palliative care education in the medical curriculum, less than half of them (46,2%) reported having received no education on palliative care. The overall performance in the PCKT was poor, with a mean score of 10,79 (± 3). While philosophical questions were correctly answered (81,8% of correct answers), most participants lacked knowledge in symptom control (50,7% for pain, 57,3% for dyspnea, 52,2% for psychiatric problems and 43,4% for gastrointestinal problems). Doctors that had already concluded a prior residency program and the ones that had prior experience with terminal patients performed better in the PCKT (p < 0,001). The high-performance group (more than 50% of correct answers) had received more training in end-of-life care, showed more interest in learning more about the subject, had a better sense of preparedness, as well as a higher percentage of experience in caring for terminal patients (p < 0,001). Conclusions Our study showed that Brazilian physicians lack not only the knowledge, but also training in end-of-life medicine. Important factors to better knowledge in end-of-life care were prior training, previous contact with dying patients and prior medical residency. Corroborating the literature, for this group, training showed to be a key factor in overall in this area of knowledge. Therefore, Brazilian medical schools and residency programs should focus on improving palliative training, especially those involving contact with dying patients.
The classification of melanoma into four histological subtypes has been questioned regarding its clinical validity in providing relevant information for treatment for metastatic tumors. Specific genetic alterations are associated with particular clinical and histopathological features, suggesting that these could be helpful in refining existing melanoma classification schemes. We analyzed BRAF V600E mutated melanomas to explore the Reflectance confocal microscopy (RCM) utility as a screening aid in the evaluation of the most appropriate patients for genetic testing. Thus, 32 melanomas were assessed regarding their BRAF V600E mutational status. Experts blinded to dermoscopic images and V600E immunohistochemistry results evaluated RCM images regarding previously described melanoma features. BRAF positive melanomas were related to younger age (p = 0.035), invasive melanomas (p = 0.03) and to the presence of hiporreflective cells (p = 0.02), epidermal nests (p = 0.02), dermal-epidermal junction nests (p = 0.05), edged papillae (p = 0.05), and bright dots (p = 0.05), and to absence of junctional thickening due to isolated cells (p = 0.01) and meshwork (p = 0.02). This study can not characterize other mutations in the BRAF, because the immunohistochemistry is specific to the type V600E. The findings should encourage the genetic evaluation of BRAF mutation. This study highlights the potential of RCM as a supplementary tool in the screening of BRAF-mutated melanomas.
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