PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas

Background Basal cell carcinomas (BCCs) are the most frequent human cancer that results from malignant transformation of basal cells in the epidermis. Gorlin syndrome is a rare inherited autosomal dominant disease that predisposes with multiple BCCs and other birth defects. Both sporadic and inherited BCCs are associated with mutations in the tumor suppressor gene PTCH1, but there is still uncertainty on the role of its homolog PTCH2. Objectives To search for mutations and genomic instability in sporadic and inherited BCCs. Methods DNA obtained from leukocytes and tumor cells was amplified by polymerase chain reaction regarding five exons of PTCH1 and PTCH2 and neighboring microsatellites. Exons were sequenced and compared with the GenBank database. Results Only D9S180, of six microsatellites, showed loss of heterozygosity in three BCCs (two sporadic and one inherited). One sporadic BCC presented the mutation g. 2885G>C in exon 17 of PTCH1, which predicts the substitution p.R962T in an external domain of the protein. In addition, the leukocytes and tumor cells of one patient with Gorlin syndrome showed the mutation g. 2839T>G in the same exon and gene, which predicts a p.E947stop and truncated protein. All control and tumor samples presented IVS9 + 217T in intron 9 of PTCH1. Conclusion Mutations found in the PTCH1 gene and neighboring repetitive sequences may have contributed to the development of the studied BCCs.

Predictors of higher number of stages in Mohs micrographic surgery for the treatment of squamous cell carcinoma of the head

BACKGROUND - Squamous cell carcinomas of the skin of the bead are better treated with Mobs micrographic surgery which has the lowest recurrence rates and allows spare normal tissue. There are some characteristics of squamous cell carcinoma that can be related to a higher number of surgical stages. OBJECTIVE - To study characteristic of head squamous cell carcinoma that predicts a higher number of Mohs surgical stages. METHODS - A retrospective analysis of 51 squamous cell carcinomas of the bead treated with Mobs surgery was performed to determine risk factors for a higher number of surgical stages. The characteristics analyzed were clinical limits, morphology, recurrence, histological differentiation and size and compared to the number of surgical stages. The analysis was performed by Fisher`s exact test and multivariate logistic regression. RESULTS - The recurrent squamous cell carcinomas showed a tendency for a higher number of stages (p=0,081). The Odds Ratio for a higher number of Mobs stages was three for inaccurate limits; although not statistically significant, it corroborates clinical and previous publication. CONCLUSION - Clinical characteristics of squamous cell carcinoma as recurrence and inaccurate limits would not predict, but could indicate tendency of a higher number of Mobs micrographic surgery stages.

Accuracy of store-and-forward diagnosis in leproy

Telemedicine might increase the speed of diagnosis for leprosy and reduce the development of disabilities. We compared the accuracy of diagnosis made by telemedicine with that made by in-person examination. The cases were patients with suspected leprosy at eight public health clinics in outlying areas of the city of Sao Paulo. The case history and clinical examination data, and at least two clinical images for each patient, were stored in a web-based system developed for teledermatology. After the examination in the public clinic, patients then attended a teaching hospital for an in-person examination. The benchmark was the clinical examination of two dermatologists at the university hospital. From August 2005 to April 2006, 142 suspected cases of leprosy were forwarded to the website by the doctors at the clinics. Of these, 36 cases were excluded. There was overall agreement in the diagnosis of leprosy in 74% of the 106 remaining cases. The sensitivity was 78% and the specificity was 31%. Although the specificity was low, the study suggests that telemedicine may be a useful low-cost method for obtaining second opinions in programmes to control leprosy.

DNA damage and repair in leukocytes of melanoma patients exposed in vitro to cisplatin

Resistance to chemotherapeutic drugs can be an obstacle to a successful treatment of cancer patients in part associated with individual response and differences in the DNA repair system. The Comet assay is an informative test to investigate DNA damage and repair in cells in response to a variety of DNA-damaging agents, including chemotherapeutic drugs. The aim of this study was to assess leukocytes damage after in-vitro cisplatin treatment and DNA repair action using the Comet assay in 20 patients with melanoma and 20 cancer-free individuals. Leukocytes` DNA damage before and after cisplatin treatment, in three different concentrations, was analyzed. The DNA repair capability was investigated after 1-5 h of in-vitro cells growing without cisplatin. The Comet score of the patients` basal DNA damage was higher than that observed in controls, but the difference was not statistically significant (P=0.85). Although both groups had similar Comet scores to all cisplatin concentrations tested and the DNA repair times, the basal DNA damage (P < 0.001) and cisplatin damages (P < 0.005) were statistically lower than the different repair times investigated. Considering the progressive increase in the Comet score due to repair time, the negative results here observed could be associated with the reduced cell culture incubation that should be better evaluated. Considering the mutagenic action of cisplatin on tumor cells and the importance of individual DNA repair mechanisms in the chemotherapeutic melanoma treatment, the peripheral leukocytes could be particularly useful as a tool for DNA repair response identified by the Comet assay. Melanoma Res 21:99-105 (C) 2011 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

Human T-cell lymphotropic virus type 1 infective dermatitis emerging in adulthood

Background Infective dermatitis (ID) is a rare dermatologic condition of childhood that has been linked to human T-cell lymphotropic virus type 1 (HTLV-1). Objective To analyze the clinical and laboratory features associated with adult-onset ID linked to HTLV-1. Methods From December 1995 to December 2007, four patients with ID were followed in the dermatology outpatient clinic of the ""Hospital das Clinicas"" of the University of Sao Paulo Medical School, Sao Paulo, Brazil. Epidemiologic data were collected and dermatologic examination was performed. Patients were submitted to histopathologic, hematologic, virologic, and immunologic investigations. Results All patients had a diagnosis of ID according to previously established criteria, despite being adults. HTLV-1 infection was demonstrated by enzyme-linked immunosorbent assay, Western blotting assays, and polymerase chain reaction. The male to female ratio was 1 : 3 and the median age at diagnosis was 42 years. The cutaneous manifestations were erythematous, scaly, and crusted lesions in all patients, and ichthyosis in three of the four cases. Histopathologic study showed lymphocytic epidermotropism in two cases. The median proviral load was 281 copies/10,000 peripheral blood mononuclear cells. Immunodeficiency was not observed in any case. The therapies used were antimicrobials, corticosteroids, and phototherapy. Conclusions Although many authors have considered ID to be a form of childhood dermatitis, we have described four cases that fulfilled the major criteria for ID, except for onset in adulthood.

Oral Mucosal Melanoma of the Mandibular Gingiva: A Case Report

Orla mucosal melanoma is rare and is reported to be more aggressive than cutaneous melanoma. The incidence of oral mucosal melanoma peaks at 41 to 60 years of age and the male to female ratio is 2 to 1. Preferred sites in the oral mucosa include the hard palate and maxillary alveolar crests. Risk factors have not been clearly identified, but melanotic pigmentation is present in one-third of patients prior to the diagnosis of melanoma. We report an unusual case of oral mucosal melanoma of the mandibular gingiva with the main characteristics of an in situ lesion and areas of superficial invasion in a 45-year-old woman. The patient was treated with surgical resection of the lesion and a 54-month follow-up shows no evidence of recurrence. Oral mucosal melanomas are aggressive neoplasms that may arise from prior pigmented lesions in the oral mucosa. Classification of these tumors is not well-established and the main prognostic factor appears to be lymph node compromise. The main treatment modality is surgical resection. Cutis. 2010;86:89-93.

Disseminated blue naevus and malignant blue naevus associated with excessive aromatase syndrome

We report a case of a 17-year-old boy who had a giant congenital blue naevus with multiple satellite pigmented lesions. Later the patient developed melanoma arising in the pre-existing lesion. He also had gynaecomastia and was diagnosed as having aromatase excess syndrome. To our knowledge, the association of these two rare conditions has not been previously reported. Further studies should be performed to investigate this unusual combination, which may have a genetic, endocrine or local cutaneous link leading to its occurrence.

High numbers of human skin cancers express MMP2 and several integrin genes

Background: Basal cell carcinomas (BCC), squamous cell carcinomas (SCC) and cutaneous malignant melanoma (MM) are solid skin cancers derived from different cell types, with different ability to metastasize. Several subtypes of integrins and matrix metalloproteinases (MMP) have been related to malignization and metastasis processes. This work aimed at a quantitative evaluation of skin cancers expressing eight integrins and MMP2 genes. Methods: Expression of integrins and MMP2 genes was evaluated on fresh tumor biopsies from BCC, SCC and MM, and respective controls, by the reverse transcriptase polychain reaction (RT-PCR) technique. Results: More than 90% tumors expressed alpha 6a, beta 1, beta 3 and beta 6 (non-melanoma), and alpha 5a, alpha 6a and MMP2 (MM). Up to 100% controls also expressed beta 1 and beta 3. The results were significant for alpha 6a in BCC (p = 0.026), alpha 6b in SCC (p = 0.035), alpha 2a in BCC (p = 0.003), beta 5 and beta 6 in BCC (p = 0.005). MMP2 was expressed in 100% MM (p = 0.0004). Conclusion: Integrin subunits alpha 2a and alpha 6a would be interesting targets for BCC anti-tumor therapy, as well as alpha 6b in case of SCC. The elevated number of BCC expressing alpha 2 and alpha 6, and of MM expressing alpha v and MMP2, corroborate literature data.

As relações internacionais no Cone Sul à época do primeiro centenário da Independência na Argetina

Neste artigo mostraremos como as elites de Buenos Aires comemoraram cem anos de Independência em 1910; a forma como aproveitaram a festa para colocar em andamento suas alianças com Europa, Estados Unidos e Chile, e rivalidades com países que consideravam um perigo constante, como Brasil e outros que, embora não perigosos, se apresentavam como enigmáticos.

Ludologia (jogo #1/nível #2). em torno da fenomenologia do jogo cerimonial: do lúdico à categoria operatória do sagrado

O objectivo deste artigo é apresentar a distinção fundamental entre os conceitos de «jogo» e de «sagrado» no quadro de uma fenomenologia da cultura e da comunicação. Trata-se de analisar de que modo o jogo e, em particular, a categoria do «lúdico» se relaciona com o conceito de sagrado, partindo do plano do «jogo cerimonial» entre ritos e mitos, tal como se representam nas sociedades arcaicas. Partimos do quadro romântico do século XIX e da noção schellinguiana de Mitologia, passando pela noção de «imersão» no écran que os jogos permitem e da distinção entre «jogo», «sagrado» e «festa», até à análise da estrutura da categoria de sagrado tal como foi desenvolvida por Rudolf Otto e do conceito de «Unheimlich». No parágrafo final mostramos como é diferente o que se passa com essas «máquinas alegóricas» que nos colocam face a Masmorras e Dragões e no centro de um «parque de diversões ontológicas».

Os sentidos no espetáculo

O artigo propõe a análise cultural da natureza espetacular de dois festivais populares contemporâneos: o desfile das escolas de samba no carnaval carioca e os Bois-Bumbás de Parintins, Amazonas. A investigação comparativa baseia-se na noção de corporalidade e focaliza os sentidos da visão e da audição na estrutura e dinâmica rituais de cada festa. A contextualização desses modos de percepção traz à cena processos cognitivos que, por sua vez, conduzem a valores culturais centrais, em especial noções diferenciadas de tempo e espaço. O jogo de significados acionado por essas concepções torna esses festivais momentos críticos de experiência e elaboração de formas diversas de estar na história e na modernidade.

"As estrelas eram terrenas": antropologia do clima, da iconografia e das constelações Ticuna

A antropologia do clima abrange o estudo da significação dos fenômenos astronômicos e atmosféricos nos mitos e ritos indígenas, bem como a importância das representações sobre tais fenômenos para as práticas sociais de povos indígenas como o Ticuna. A identificação dos corpos celestes, presentes na iconografia dos artefatos utilizados na festa de puberdade Ticuna, remete a aspectos da mitologia e da cosmovisão deste povo, expressos em cantos e relatos rituais, traduzidos em termos das expectativas em face das relações entre o movimento das estrelas no céu ao longo do ano e a influência da sazonalidade das chuvas e da estiagem nas atividades de sobrevivência. Tal identificação de agrupamentos de corpos celestes visualizados pelos Ticuna permite correlações com as constelações reconhecidas convencionalmente.

Como manter um bolo sempre fresco

(...) Um exemplo curioso prende-se com a forma como são partidas as fatias de um bolo e como são distribuídas pelos convidados numa festa. (...) Desde logo, para evitar que alguém se possa queixar do resultado da partilha, o melhor método designa-se por "um parte, outro escolhe" (...) Mas, se o problema se colocar a mais de dois convidados? A solução já não é assim tão simples. O desenvolvimento deste tipo de algoritmos acaba por ter aplicações em muitas outras áreas, desde a simples partilha de uma herança às negociações de desarmamento ou ao estabelecimento de fronteiras entre países. (...) Vejamos, agora, um método muito interessante para manter um bolo sempre fresco. Note-se que a forma tradicional de cortar um bolo é propícia a que, com o passar do tempo, este fique seco junto da zona de corte. O método inovador foi inventado por Francis Galton (1822-1911), matemático e estatístico inglês, primo de Charles Darwin. O seu texto "Cutting a Round Cake on Scientific Principles", publicado na edição de 20 de dezembro de 1906 da conceituada revista Nature, foi divulgado recentemente por Alex Bellos (...) As fatias devem ser cortadas de um lado ao outro do bolo (...) Se olharmos de cima, o bolo utilizado tem o formato de um círculo. Cada fatia cortada é limitada por duas retas paralelas e deve conter o centro do círculo. A ideia é cortar uma fatia e, de seguida, juntar as duas partes que sobraram, unindo-as, se necessário, com um elástico, de modo a sobrepor as zonas do corte (...) Da próxima vez que nos queiramos deliciar novamente com o bolo, devemos fazer novo corte com as mesmas características do anterior, mas agora com direção perpendicular (...)

Imitações cantadas por crianças de 2 a 3 anos

Uma das actividades musicais mais importantes na nossa cultura é o canto: cantamos juntos numa festa de aniversário, de casamento, ou cantamos a um bebé no berço ou até quando estamos sozinhos. O canto per - mite ao indivíduo exprimir-se, comunicar, partilhar. Quando é que as crianças começam a cantar? Quando é que podem aprender as primeiras canções, isto é, repeti-las com uma certa aproximação? Quando é que começam a inventar? Depois de muitos estudos centrados na faixa etária dos 3 aos 6 anos, começou a investi - gar-se o que pode acontecer antes, ou seja, a partir do primeiro funcionamento do ouvido. No presente estudo, depois de fazer algumas referências aos estudos sobre as primeiras produções vocais, apresentarei uma fase intermediária da investigação longitudinal de seis anos que estou a realizar com a minha colega Donatella Villa. Trata-se de um projecto investigativo que pretende estudar as consequências de um programa educativo sobre o desenvolvimento das capacidades musicais e, em particular, da capacidade de cantar afinado. O programa tem sido começado pelas mães já desde os últimos meses de gravidez e continua a desenvolver-se em encontros semanais com as crianças. As mães têm a tarefa de continuar as actividades em casa, anotar no diário preparado por nós as reacções das crianças, e gravar cassetes com as produções vocais delas. Aqui apresentar-se-ão as capacidades demonstradas pelas crianças na etapa dos 2 aos 3 anos de idade em repetir canções conhecidas, inventar palavras sobre as mesmas e inventar canções.