Atypical mole syndrome and dysplastic nevi: identification of populations at risk for developing melanoma - review article

Atypical Mole Syndrome is the most important phenotypic risk factor for developing cutaneous melanoma, a malignancy that accounts for about 80% of deaths from skin cancer. Because the diagnosis of melanoma at an early stage is of great prognostic relevance, the identification of Atypical Mole Syndrome carriers is essential, as well as the creation of recommended preventative measures that must be taken by these patients

Association of melanoma with intraepithelial neoplasia of the pancreas in three patients

Melanoma and pancreatic cancer are two low frequency types of cancer. In this study, three patients who developed both melanoma and intraepithelial neoplasia of the pancreas were tested for CDKN2A mutations and deletions, and investigated for rare germline copy number variations (CNVs). The three patients were negative for CDKN2A point mutations and intragenic deletions. One of these patients carried two large (> 300 kb) germline CNVs, both genomic duplications affecting coding sequences that are not copy number variable in the population. A second patient exhibited loss of the entire Y chromosome, an event probably coincidental related to his advanced age (79 years-old). Our data pinpoint that rare germline CNVs harboring genes can contribute to the cancer predisposition of melanoma and intraepithelial neoplasia of the pancreas.This work was supported by the National Institute of Science and Technology in Oncogenomics (Grant 08/57887-9) and FAPESP (Grants 2012/21932-6 and 2013/07480-8)

Recurrent melanocytic nevi and melanomas in dermoscopy: results of a multicenter study of the International Dermoscopy Society

IMPORTANCE Differentiating recurrent nevi from recurrent melanoma is challenging. OBJECTIVE To determine dermoscopic features to differentiate recurrent nevi from melanomas. DESIGN, SETTING, AND PARTICIPANTS Retrospective observational study of 15 pigmented lesion clinics from 12 countries; 98 recurrent nevi (61.3%) and 62 recurrent melanomas (38.8%) were collected from January to December 2011. MAIN OUTCOMES AND MEASURES Scoring the dermoscopic features, patterns, and colors in correlation with the histopathologic findings. RESULTS In univariate analysis, radial lines, symmetry, and centrifugal growth pattern were significantly more common dermoscopically in recurrent nevi; in contrast, circles, especially if on the head and neck area, eccentric hyperpigmentation at the periphery, a chaotic and noncontinuous growth pattern, and pigmentation beyond the scar's edge were significantly more common in recurrent melanomas. Patients with recurrent melanomas were significantly older than patients with recurrent nevi (mean [SD] age, 63.1 [17.5] years vs 30.2 [12.4] years) (P<.001), and there was a significantly longer time interval between the first procedure and the second treatment (median time interval, 25 vs 8 months) (P<.001). In a multivariate analysis, pigmentation beyond the scar's edge (P=.002), age (P<.001), and anatomic site (P=.002) were significantly and independently associated with the diagnosis of recurrent melanoma in dermoscopy. CONCLUSIONS AND RELEVANCE Dermoscopically, pigmentation beyond the scar's edge is the strongest clue for melanoma. Dermoscopy is helpful in evaluating recurrent lesions, but final interpretation requires taking into account the patient age, anatomic site, time to recurrence, growth pattern, and, if available, the histopathologic findings of the first excision

Análise epidemiológico da vítima de traumatismo intracraniano no macrorregiões brasileiras

Compare the number of deaths and length of stay resulting from intracranial trauma (TBI) by Brazilian region, sex and age group. This is a descriptive cross-sectional study, using information obtained from the SUS Hospitalization System (SIH/SUS), which was published on the DATASUS platform by the Ministry of Health. A period of 5 years was analyzed, between January 2018 and December 2022, in Brazilian macro-regions. In the period analyzed, 511,480 hospitalizations for traumatic brain injury (TBI) were recorded in Brazil. In terms of gender, males predominated, accounting for 387,664 hospitalizations (75.79%). It is also important to highlight that the nature of urgency was considered, without distinction between public and private hospitalization. Finally, the importance of developing awareness and primary prevention policies aimed, above all, at younger audiences is clear, as this is the population most vulnerable to this trauma.Comparar o número de óbitos e tempo de internamento decorrente de traumatismo intracraniano (TCE) por região brasileira, sexo e faixa etária. Trata-se de um estudo descritivo de corte transversal, com a utilização de informações obtidas no Sistema de Internações do SUS (SIH/SUS), as quais foram publicadas na plataforma DATASUS pelo Ministério da Saúde. Analisou-se um período de 5 anos, entre janeiro de 2018 e dezembro de 2022, nas macrorregiões brasileiras. &nbsp;No período analisado, foram registradas 511.480 internações por traumatismo cranioencefálico (TCE), no Brasil. &nbsp;Em relação ao sexo, o sexo masculino foi o que predominou, totalizando 387.664 das internações (75,79%). É importante ressaltar, ainda, que se considerou o caráter de urgência, sem distinção entre o internamento público e privado. Por fim, percebe-se a importância de se desenvolver políticas de conscientização e prevenção primária voltadas, sobretudo, ao público mais jovem, visto que se trata da população mais vulnerável a esse trauma

Puberdade precoce e tardia: revisão de literatura

Introdução: A puberdade é o processo de maturação que ocorre na adolescência, marcado por transformações físicas, cognitivas e psicológicas, que podem se manifestar de forma precoce ou tardia, mediante fatores de risco, sendo necessário o acompanhamento e tratamento adequados. Objetivos: Realizar uma revisão da literatura sobre puberdade precoce e tardia, com enfoque nas etiologias, fatores de risco, diagnósticos e tratamentos. Métodos: Este é um estudo observacional retrospectivo da literatura a partir de artigos publicados no Pubmed. Resultados: Foram analisados 18.947 artigos, sendo 13.241 sobre puberdade precoce e 5.706 sobre puberdade tardia. Com os critérios de exclusão, restaram 22 artigos acerca de puberdade precoce e 12 sobre puberdade tardia. A seleção de títulos excluiu 8 artigos de puberdade precoce e 2 de puberdade tardia. Após leitura e análise, 2 artigos foram excluídos e restaram 15 que compuseram a revisão, a partir da qual foi feita a síntese de dados. Conclusão: O estudo mostrou que ainda é necessário estudar melhor as diversas causas de alterações do tempo da puberdade, assim como buscar novos métodos de diagnóstico e tratamento para melhorar a qualidade de vida desses pacientes

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

PURPOSE: CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. METHODS: CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. RESULTS: Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. CONCLUSION: The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Síndrome de Chiari e Hidrossiringomielia com comprometimento neurológico: um relato de caso

A Malformação de Chiari (MC) pertence a um amplo grupo de raras deformidades estruturais da junção craniocerebelomedular. O tipo I da doença caracteriza-se pela herniação tonsilar ou amigdaliana cerebelar devido à anomalia da base do crânio e da parte superior da coluna cervical, além de a porção medial do lobo inferior do cerebelo pelo canal cervical também se protuberar através do forame magno, impedindo que o líquor flua normalmente através do canal. A real prevalência da doença é desconhecida, pois muitos pacientes com herniação cerebelar são assintomáticos e o problema agrava-se na fase adulta, com queixas de cefaleia intensa e, por vezes, parestesia. O objetivo deste estudo é relatar um caso de síndrome de Chiari (SC) em uma paciente de 53 anos, ao abordar sua apresentação clínica, diagnóstico e tratamento. Paciente do sexo feminino, 53 anos, foi admitida em um hospital da rede pública de referência se queixando de cefaleia occipital intensa e cervicalgia com irradiação da dor para os membros superiores, acompanhada de parestesia nos quatro segmentos. Relatou já sentir dor há 2 anos, mas apresentou piora do quadro clínico há 8 meses. Foi, também, observada incontinência urinária devido à dissinergia detrusora-esfincteriana por provável bexiga neurogênica. Foi, então, realizado exame de imagem de ressonância magnética (RNM) do crânio e da coluna cervical, com obtenção de sequências ponderadas em T1, T2 e STIR, nos planos sagital e transverso com contraste, o qual evidenciou leve alargamento medular, além de sinais de hidrossiringomielia difusa, com hipossinal na sequência T2 intramedular na altura de D1-D2 (coluna dorsal). Foi notada discreta herniação das tonsilas cerebelares junta ao forame magno, típica da SC, sendo, por fim, confirmado o diagnóstico. A paciente, no entanto, não apresentava hidrocefalia, mesmo com a interrupção do fluxo do líquido cefalorraquidiano (LCR) para o canal vertebral. Ela encaixou- se nos parâmetros de indicação cirúrgica, sendo realizada craniotomia occipital, com acesso ao plexo coroide do quarto ventrículo do tronco encefálico com o intuito de elevar as tonsilas cerebelares baixas, herniadas no canal espinhal cervical e bloqueando o fluxo do LCR. Após a descompressão craniocervical, o curso do líquor foi restaurado e a paciente foi, por fim, encaminhada à sala de recuperação pós-operatória. A SC é uma rara doença que apresenta quadro clínico e alterações radiológicas complexas e extensas e, por vezes, o diagnóstico é retardado devido à inespecificidade dos sintomas confundidos com cervicalgias e cefaleias comuns. A hipótese diagnóstica deve ser embasada nas queixas do paciente, na anamnese minuciosa, exame clínico e nos exames de imagens, sendo a prevalência desta patologia de difícil definição e com faixas etárias distintas

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost