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Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos Brasileiros de Oftalmologia is the property of Arquivos Brasileiros de Oftalmologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introdução: Os gliomas pertencem aos tumores primários do sistema nervoso central e são neoplasias originárias nas células da glia. São classificados pelo padrão de infiltração, grau histopatológico e alterações moleculares. Mutações na enzima isocitrato desidrogenase (IDH), identificada em alguns tumores gliais, marcam o início da carcinogênese, aumentando a funcionalidade das enzimas metabólicas IDH1 e IDH2. Assim, dividem-se os gliomas difusos do adulto pela detecção dessa mutação, determinando características que podem facilitar o tratamento, havendo terapias-alvo específicas, como vorasidenib e ivosidenib, que melhoram o prognóstico dos pacientes. Objetivo: Analisar e correlacionar a prevalência da mutação IDH1-R132H, detectada por meio de exame imuno-histoquímico tumoral e avaliar a epidemiologia dos pacientes com gliomas submetidos a tratamento cirúrgico entre 2019 e 2023 no Hospital Universitário Evangélico Mackenzie (HUEM). Método: Estudo transversal e analítico, com coleta de dados históricos de prontuários médicos do HUEM, analisando o laudo anatomopatológico. A amostra final é composta por 67 pacientes. Resultados: Houve maior prevalência dos casos no sexo masculino, raça branca, com a faixa etária entre 61-70 anos. Quanto aos subtipos, a origem em astrócitos foi a principal. Os glioblastomas IDH-selvagem grau histológico 4 prevaleceram. No período estudado, a maioria veio a óbito. Conclusão: A presença de mutações IDH1, somada a demais alterações genômicas, pode definir o prognóstico e a estratégia de escolha para o tratamento dos pacientes. Dessa forma, evidencia-se a importância de ampliar o conhecimento imuno-histoquímico dos gliomas, visto que isso pode levar a estratégias terapêuticas mais efetivas.

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introdução: O carcinoma medular da tireoide é um câncer raro que se origina nas células C parafoliculares e pode ser esporádico ou hereditário. Tanto as doenças esporádicas quanto as hereditárias são causadas principalmente por mutações no proto-oncogene RET.Objetivo: Investigar variantes germinativas patogênicas do gene RET em uma coorte de pacientes com carcinoma medular da tireoide no Estado da Bahia. Método: Estudo transversal, descritivo, envolvendo pacientes com diagnóstico histopatológico de carcinoma medular da tireoide, encaminhados para testes moleculares de 2020 a 2022. Dados clínicos e patológicos foram coletados de dados médicos. O DNA genômico foi extraído do sangue periférico. Os éxons 10, 11, 13, 14 e 15 do RET foram amplificados usando a técnica de reação em cadeia da polimerase e posteriormente sequenciados usando o método de Sanger. Resultados: O estudo incluiu 29 pacientes (82,8% mulheres). A idade média no diagnóstico foi de 46,5 ± 13,1 anos, e o tamanho médio do tumor foi de 2,1 ± 1,4 cm. De acordo com a classificação TNM, 38% dos tumores foram estadiados como T1a, 27,6% como T1b, 24,1% como T2 e 10,3% como T3. Metástase linfonodal regional (N1) esteve presente em 44,8% dos casos. Metástase a distância (M1) para o mediastino foi observada em um caso (3,4%). Variantes do RET foram identificadas em 55,2% dos pacientes. A variante patogênica C634R foi identificada em um paciente (3,4%). Conclusão: Este estudo conseguiu descrever o perfil clínico e molecular de pacientes com carcinoma medular de tireoide no Estado da Bahia.

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The White-eared Pufbird (Nystalus chacuru) is a species belonging to the family Bucconidae, having a wide distribution in the Brazilian territory, except in some regions of the Amazon. In this paper, I present the first documented record of melanism in an individual found in the northwest of Rio Grande do Sul state, municipality of Santa Rosa, between an Industrial District and an anthropized field area. Photographic and video records of the species on citizen science platforms such as Wikiaves and Macaulay library were analyzed. However, there were not yet doumentations of individuals showing melanism in the species, making this, an important observation about the phenomenon. [ABSTRACT FROM AUTHOR]

Sickle cell disease affects almost exclusively individuals of African descent. People with sickle cell disease can present significant symptoms and serious complications. The mutation in hemoglobin (HbS) affects the morphology of red blood cells, causing them to acquire a sickle shape, which impacts blood circulation, leading to vaso-occlusion, chronic hemolysis, inflammation, and endothelial activation. A narrative literature review was conducted considering Sickle Cell Anemia, pregnancy in sickle cell anemia, and pregnancy complications in patients with sickle cell disease, between the period of 2010 and 2023. The findings indicate that pregnancy in sickle cell disease presents maternal-fetal risks, regardless of genotype (SS, SC, or S-β-Thalassemia). However, there is no restriction on the occurrence of pregnancy, but rather a recommendation for early monitoring and genetic counseling. It is concluded that sickle cell disease is a risk factor for morbidity/mortality and adverse perinatal outcomes, affecting the health of pregnant women, fetus, and newborn. [ABSTRACT FROM AUTHOR]

O João-bobo (Nystalus chacuru) é uma espécie pertencente à família Bucconidae, tendo ampla distribuição no território brasileiro, exceto em algumas regiões da Amazônia. Neste trabalho, apresento o primeiro registro documentado de melanismo em um indivíduo encontrado no noroeste do estado do Rio Grande do Sul, município de Santa Rosa, entre um Distrito Industrial e uma área antropizada de campo. Foram analisados registros fotográficos e vídeos da espécie nas plataformas de ciência cidadã como Wikiaves e Macaulay library. Contudo, ainda não havia doumentações de indivíduos apresentando melanismo na espécie, tornando-se este, uma importante observação sobre o fenômeno.

Copyright of Scientia Medica is the property of EDIPUCRS - Editora Universitaria da PUCRS and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objetivos: descrever as características radiológicas que permitem o reconhecimento da arteriopatia cerebral associada à mutação ACTA2 nas imagens de ressonância magnética. Metodologia: foram analisadas imagens de ressonância magnética (RM) e angiorresonância (ARM) de crânio. Resultados: paciente do sexo feminino, 19 anos, com déficit cognitivo e cefaleia occipital, evoluindo com paraparesia à direita e amaurose bilateral. Realizou RM e ARM de crânio, que demonstrou achados característicos: retificação das estruturas arteriais, hipoplasia e arqueamento do corpo caloso anteriormente, aspecto em “V” do joelho do corpo caloso e proeminente impressão da artéria basilar sobre a ponte. Foram também vistos focos de alteração de sinal em zona de fronteira vascular frontal direita. Conclusão: Mutações ACTA2 são raras e caracterizam-se por uma disfunção sistêmica do músculo liso, causando alterações cerebrovasculares, dissecções e aneurismas de aorta, hipertensão pulmonar, dentre outros. A arteriopatia cerebral é responsável por episódios de acidente vascular cerebral na infância, sendo caracterizada por retificação das estruturas arteriais e oclusão progressiva das artérias carótidas internas terminais e seus ramos. Tem características de imagem únicas, que permitem diferenciá-la da doença Moya-Moya, conforme acima descritas. Os radiologistas devem, portanto, reconhecer tais achados uma vez que o correto diagnóstico tem importantes implicações no manejo e no prognóstico.

Para o professor, ser aquele que compartilha o conhecimento e favorece o aprender a aprender, é estar em contínuo aprendizado. Assim, buscamos ferramentas que proporcionem uma sala de aula “viva”. Ademais, cientes dos desafios inerentes ao ensino-aprendizagem da evolução biológica nos diferentes níveis da educação, buscamos evidenciar as inter-relações entre as diversas atividades que permeiam uma sequência didática e a aprendizagem de conceitos. Trabalhamos a construção conceitual de mutação, biodiversidade e seleção natural, que são preâmbulos necessários para a compreensão da evolução biológica, com uma sequência didática para estudantes do 9° ano do Ensino Fundamental II, com o intuito de privilegiar a participação ativa na aprendizagem, além de estimular o interesse do estudante, passo importante para a construção do conhecimento e formação integral. Os resultados da pesquisa mostraram o quão complexo é ensinar/aprender os conceitos de evolução biológica para alunos do Ensino Fundamental II, mas podemos afirmar que eventos educativos motivadores enriquecem o fazer pedagógico, podem propiciar melhor assimilação dos conceitos e devem ser utilizados com maior frequência em nossas aulas.

The Ehlers-Danlos syndrome (EDS) consists of a group of diseases characterized by defective collagen production or failure in its organization, resulting in changes in the strength and extensibility of connective tissue. This report describes the dermatological and histological findings observed in a 3-month-old crossbreed cat with rupture and detachment of skin in the thoracic limb and rupture of the skin in the cervical region. Upon dermatological examination, the cat presented fragile and hyperextensible skin in the cervical region and a skin extensibility index of 21%. Histopathological evaluation of the skin specimens revealed evident disorganization of collagen bundles in dermis and in the Masson's trichrome staining, follicular dysplasia was found. The presumptive diagnosis of EDS was made based on the clinical and histopathological findings. Sanger sequencing did not detect any mutated alleles for the c.3420delG mutation in COL5A1 gene, which was an autosomal dominant mutation previously been associated with Ehlers-Danlos syndrome in cats. The absence of this mutation in the reported cat suggests that other mutation may also be responsible for the development of cutaneous asthenia in this or maybe other genes related to collagen metabolism. [ABSTRACT FROM AUTHOR]

Copyright of Cuadernos del Centro de Estudios de Diseño y Comunicación is the property of Cuadernos del Centro de Estudios de Diseno y Comunicacion and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Bio-grafía. Escritos Sobre la Biología y su Enseñanza is the property of Universidad Pedaggica Nacional and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Genetic editing has many applications in almost all areas of society, but may also lead to unpredictable consequences. Genome editing to modify the human germline is at the center of global discussion. Owing to the increasing number of unanswered scientific, ethical, and policy questions, the scientific community agrees that it would be inappropriate to genetically modify embryos. A serious and open debate is necessary to decide whether such research should be suspended or encouraged. Here we show some bold arguments in favor of deleting deleterious genes from the human genome and the risks liberal eugenism poses. [ABSTRACT FROM AUTHOR]

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling. [ABSTRACT FROM AUTHOR]

Well into the 21st century, in the tradition of the interpretive practices, the idea of such a thing as talent is still a reality. As a consequence, the existing methodology, as is often the case, relies on the insistent number of repetitions in order to obtain qualitative results. The setback is that this action emphasizes the quantitative behavior, lacking reflection and conscious organization. This investigation aims at presenting the path of scientific achievements about piano pedagogy, as well as mapping a group of tools based on raising awareness of the studying/learning processes, focusing on the dualism: time vs. results. The underlying theory, serving as the main support, introduces national teachers/pianists that have left a legacy of piano studies based on scientific premises, thus weakening the myth of innatism, such as Antonio Sá Pereira (1888-1966), José Alberto Kaplan (1935-2009), and Scheilla Glaser (undated). It is a review of literature which emphasizes the importance of the shift and, consequently, of the real achievements in the path of piano performance. [ABSTRACT FROM AUTHOR]

O presente artigo discute os desafios da estética contemporânea em tempos de profunda mutação nos modos de sentir, pensar e existir. Assumindo que a presente mutação se dá no próprio sentido de forma e em todas as formas de sentido, o artigo considera que o grande desafio da “estética” é dar sentido ao em aberto dos sentidos, propor formas em aberto de convivência e ação, de pensamento e sensibilidade e não propor novos ou outros sentidos e formas fechadas e determinadas. Buscar formas formadas e sentidos fechados é o que caracteriza o fascismo em todos os seus modos de expressão e mobilização. A reflexão propõe uma poética do sendo, isto é, do gerúndio, que encontra nas experiências de esboço e ritmo algumas de suas palavras indicadoras. Considera que para resistir ao fascismo das formas contemporâneas de controle é preciso seguir as indicações dos restos resistentes aos processos de totalização de sentido e inventar uma linguagem que sente e pensa no gerúndio. Esse seria um modo de devir floresta em tempos de devastação total.

Metastatic melanoma has been associated with a poor prognosis, with overall survival rates at 5 years of 10%. Until 2011, the only treatments available for metastatic melanoma were chemotherapy and immunotherapy with interleukin-2. The more in-depth knowledge about the molecular biology of melanoma and the identification of BRAF mutations, which are the most frequently found, allowed us to find new therapeutic targets that came to modify the prognosis of these patients. Currently, the treatments available for metastatic melanoma with BRAF mutation are immunotherapy with immunological checkpoint inhibitors (anti-PD-1 to anti-CTLA-4) and targeted therapy with BRAF inhibitors and MEK inhibitors. However, the first-line therapy to be instituted in these patients remains unknown. [ABSTRACT FROM AUTHOR]

Introdução: O melanoma, ainda que represente apenas 5% das neoplasias cutâneas, é o tumor desse órgão com maior taxa de mortalidade. O constante desenvolvimento de novos fármacos, nomeadamente aqueles que têm como alvo terapêutico a proteína B-Raf, aumentou significativamente a sobrevida global dos doentes. Até à data, vários estudos avaliaram as correlações clínico-patológicas com esta mutação; no entanto, não há publicado nenhum estudo referente à população portuguesa. Material e Métodos: No presente trabalho, os autores investigaram a existência de correlações clínico-patológicas com a presença ou ausência de mutação BRAF, numa população de doentes com melanoma cutâneo metastizado, com vista à identificação de fatores de prognóstico relacionados com esta via de sinalização celular no melanoma. Resultados: Foram avaliados os processos de 197 doentes com melanoma metastizado e mutação BRAF testada, observados no Serviço de Dermatologia do IPOLFG entre janeiro de 2012 e dezembro de 2016. A mutação BRAF foi documentada em 46,7% (n=92) dos doentes, 60% dos quais (n=56) eram do sexo masculino. Cinquenta e dois por cento (n=48) dos tumores primários estavam localizados no tronco, o que sugere a associação da mutação com a exposição solar intermitente. Em 40% dos doentes (n=79) a metastização ocorreu em múltiplos locais anatómicos. A percentagem de doentes com metastização num único local anatómico foi de 60% (n=118), sendo os locais mais frequentemente envolvidos as cadeias ganglionares locorregionais (36%, n=43) e o pulmão (26,6%, n=25). Conclusão: Os resultados apresentados não revelaram diferenças na população portuguesa estudada, estando de acordo com aqueles documentados para outras populações e descritos na literatura.

Plantas de banana foram regeneradas através da cultura de tecidos a partir de gemas apicais de bananeira Cavendish, cultivar Grande Naine, e mantidas por dez subcultivos em diferentes meios de cultura. O DNA genômico foi extraído a partir de rizomas das plantas matrizes originais, das plantas mutantes anãs e variegadas oriundas do cultivo in vitro e das plantas provindas de cinco e dez subcultivos. A análise, Random Amplified Polymorphic DNA (RAPD) foi realizada utilizando-se 20 “primers” (iniciadores – sequência conhecida de nucleotídeos3), dois dos quais (10%) revelaram polimorfismo entre as plantas anãs e variegadas em relação às plantas normais. Com a utilização do “primer” OPJ-04, foram amplificados, nas plantas normais, dois fragmentos de aproximadamente 1,5 e 2,0kb (quilobase, mil pares de bases) os quais estavam ausentes nas plantas anãs. Já o “primer” OPH-09 apresentou a amplificação de uma banda de aproximadamente 1,7kb presente tanto nas plantas anãs quanto nas variegadas, mas ausente nas plantas normais. Neste estudo, mostrou-se que através do uso de marcador molecular RAPD é possível detectar variação somaclonal surgida durante o processo de micropropagação nos mutantes.

O presente estudo tem como objetivo avaliar o potencial efeito mutagênico do café. O material genético é constantemente exposto a vários agentes artificiais e naturais, que podem acarretar em uma mutação. Sendo o café um importante alimento consumido mundialmente que contem substâncias que podem acarretar em uma mutação, torna-se importante o estudo sobre os possíveis efeitos mutagênicos. Neste trabalho foi analisado por meio de testes in vivo em ratos Wistar eritrócitos micronucleados, através do ensaio do micronúcleo, lâminas de células de medula óssea desses roedores. A avaliação estatística dos dados mostra que os diferentes tratamentos testados não induziram micronúcleos sobre eritrócitos policromáticos, no entanto animais do grupo 1 consumiram significativamente maior quantidade de infusão em relação aos grupos 2 e 3. A análise estatística seguiu o teste de Tukey (p

Copyright of Cuadernos del Centro de Estudios de Diseño y Comunicación is the property of Cuadernos del Centro de Estudios de Diseno y Comunicacion and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos Brasileiros de Oftalmologia is the property of Arquivos Brasileiros de Oftalmologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A facomatose pigmentoqueratósica é uma rara variante da síndrome do nevo epidérmico. Esta doença caracteriza-se pela associação de nevo epidérmico com diferenciação sebácea, nevos spilus e anomalias extracutâneas que envolvem sistemas nervoso central, esquelético e renal. Neste relato, discutimos o caso de uma paciente que apresentava desde o nascimento nevo sebáceo extenso na região cefálica, seguindo as linhas de Blaschko, e múltiplos nevos melanocíticos no hemicorpo direito, bem como alterações esqueléticas decorrentes de raquitismo hipofosfatémico. Ressaltamos a importância de se reconhecer a síndrome do nevo epidérmico e suas diferentes formas de apresentação, bem como manifestações cutâneas associadas a doenças osteometabólicas.

Cystic fibrosis is an autosomal recessive genetic disease whose pulmonary involvement is the main cause of morbidity and mortality. Objective: To describe the combination of CFTR protein mutations and the functional status of adolescents with Cystic Fibrosis treated at a referral center. Methods: A case series study was carried out, in which 11 adolescents chronically colonized by Pseudomonas aeruginosa were included in the respiratory physiotherapy outpatient clinic of the Fernandes Figueira Institute (IFF / Fiocruz). Patient identification data, genetic study, anthropometric data, pulmonary function and functional evaluation were collected. Results: Of the patients evaluated, 3 were male and 8 female, with ages varying between 14 and 18 years. The most present individual mutation was DF508. The greatest impairment of lung function (forced expiratory volume in the 1st second of 30% predicted) and shorter distance walked in the 6-minute walk test (64% predicted) was observed in the patient with the combination of DF508 / R1066C mutations. In dynamometry, the worst performance was observed in the patient with the DF508 / R334W mutations (45% predicted). Regarding nutritional status, the lowest percentile of the body mass index for age (1.4) was observed in the patient whose combination of mutations was DF508 / Y913k. Conclusions: We observed that the genetic study in CF is fundamental for the understanding of the clinical and functional picture and for the establishment of individualized therapeutic behaviors. [ABSTRACT FROM AUTHOR]

Copyright of Jornal de Pediatria is the property of Sociedade Brasileira de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Jornal Brasileiro de Patologia e Medicina Laboratorial is the property of Sociedade Brasileira de Patologia Clinica and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Determining a weekly class schedule is a computationally complex problem whose computational cost can increase exponentially in relation to the number of variables involved in the solution. There are several software on the market that build this timetable based on deterministic rules. Alternatively, we intend to build this solution using Genetic Algorithms, making use of its exploratory capacity in multidimensional spaces. [ABSTRACT FROM AUTHOR]

Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling. [ABSTRACT FROM AUTHOR]

Copyright of Revista de Medicina e Saúde de Brasília is the property of Revista de Medicina e Saude de Brasilia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A síndrome de poliendocrinopatia autoimune tipo 1 (APS-1), também conhecida como distrofia ectodérmica-candidíase-poliendocrinopatia autoimune (APECED), é um distúrbio autossômico recessivo raro causado por mutações no gene regulador autoimune (AIRE). Sendo assim, ela é imunologicamente caracterizada pelo ataque celular e/ou mediada por anticorpos que gera a destruição de órgãos-alvo. Além disso, é marcada pela tríade patognomônica: candidíase crônica, hipoparatireoidismo e doença de Addison, com várias outras manifestações endócrinas e não endócrinas. Logo, o diagnóstico é feito com base na presença de duas dessas três características clássicas e o tratamento visa controlar as inúmeras deficiências que os pacientes possam apresentar. Esta revisão literária teve como objetivo a compreensão do envolvimento do gene AIRE em relação aos aspectos imunológicos presentes e, consequentemente, manifestações clínicas dessa doença. Assim, evidenciou-se a necessidade de ampliar a discussão sobre essa patologia, com o intuito de melhorar a qualidade de vida dos pacientes, mediante diagnóstico e tratamento precoces e que estejam de acordo com as manifestações clínicas de cada paciente. Desse modo, a pesquisa de caráter qualitativo envolveu artigos científicos dos periódicos eletrônicos LILACS (Literatura Latino-Americana e do Caribe), SCIELO (Scientific Electronic Library Online) e NCBI (National Center for Biotechnology Information), entre os anos 2009 e 2016. Por conseguinte, nota-se a relevância dessa revisão, pois observou-se que, apesar de os autores convergirem sobre as opiniões acerca dessa síndrome, há, ainda, muitas questões obscuras no que diz respeito aos mecanismos da doença. Isso evidencia a necessidade de se promoverem mais discussões sobre esse tema.

Nesta Edição Temática da “História do Controle do Câncer no Brasil”, registramos o progresso alcançado até o momento no entendimento epidemiológico e vigilância dos tumores adrenocorticais (TCA ) no Estado do Paraná. Esses resultados foram apresentados no Congresso deEndocrinologia Pediátrica realizado em Curitiba, no ano de 2000, e um ano mais tarde, por meio da publicação do mesmo grupo3, confirmada por endocrinologistas da Universidade de São Paulo (USP)4.

AbstractLung cancer is the leading cause of cancer-related deaths worldwide. Promising new therapies have recently emerged from the development of molecular targeted drugs; particularly promising are those blocking the signal transduction machinery of cancer cells. One of the most widely studied cell signaling pathways is that of EGFR, which leads to uncontrolled cell proliferation, increased cell angiogenesis, and greater cell invasiveness. Activating mutations in the EGFR gene (deletions in exon 19 and mutation L858R in exon 21), first described in 2004, have been detected in approximately 10% of all non-squamous non-small cell lung cancer (NSCLC) patients in Western countries and are the most important predictors of a response to EGFR tyrosine-kinase inhibitors (EGFR-TKIs). Studies of the EGFR-TKIs gefitinib, erlotinib, and afatinib, in comparison with platinum-based regimens, as first-line treatments in chemotherapy-naïve patients have shown that the EGFR-TKIs produce gains in progression-free survival and overall response rates, although only in patients whose tumors harbor activating mutations in the EGFR gene. Clinical trials have also shown EGFR-TKIs to be effective as second- and third-line therapies in advanced NSCLC. Here, we review the main aspects of EGFR pathway activation in NSCLC, underscore the importance of correctly identifying activating mutations in the EGFR gene, and discuss the main outcomes of EGFR-TKI treatment in NSCLC.

Introduction The pathogenesis of Parkinson’s disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD).Method A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05.Results Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals.Conclusion SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.

INTRODUCTION: Mutations in the otoferlin gene are responsible for auditory neuropathy. OBJECTIVE: To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy. METHODS: This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism. RESULTS: The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%). CONCLUSION: There are differences at the molecular level in patients with and without auditory neuropathy.

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Conexão Letras is the property of Conexao Letras and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pesquisa Veterinaria Brasileira is the property of Colegio Brasileiro de Patologia Animal - CBPA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

OBJECTIVES: This review aimed to organize and consolidate the latest knowledge about mutations and genetic polymorphisms related to hereditary thrombophilia and their potential association with pediatric stroke and cerebral palsy (CP). SOURCES: Scientific articles published from 1993 to 2013, written in Portuguese, English, French, and Spanish, were selected and reviewed. The publications were searched in electronic databases, and also in the collections of local libraries. The terms "hereditary thrombophilia", "polymorphisms", "mutation", "pediatric strokes", and "cerebral palsy" were used for the research. SUMMARY OF THE FINDINGS: The search in databases and in the bibliographic references retrieved 75 articles for inclusion in this review. Studies that investigated hereditary thrombophilias and their associations to CP and arterial and venous pediatric stroke presented contradictory results. The meta-analysis and case-control studies that showed positive results for this association described only slightly increased relative risks and sometimes had questionable conclusions. The association of two or more hereditary thrombophilias, or the association between thrombophilia and other specific clinical risk factors, suggest a higher risk of CP and pediatric stroke than isolated hereditary thrombophilia. CONCLUSIONS: Larger, multicenter studies should be developed in order to elucidate the role of mutations leading to hereditary thrombophilia and the development of CP and pediatric stroke. The complex and multifactorial etiology of CP and stroke makes this an arduous and difficult task; however, the benefits generated by these studies are immeasurable.

Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.