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Id: biblio-914894
Autor: Pramio, Dimitrius T; Kashiwabara, André Y; Pennacchi, Paula C; Rivas, Maria P; Maria-Engler, Silvya S; Campos, Antônio H J F M; Duprat, João Pedreira Neto; Carraro, Dirce Maria; Krepischi, Ana C V.
Título: Epigenetic signature of differentially methylated genes in cutaneous melanoma
Fonte: Appl. cancer res;37:1-5, 2017. tab, ilus.
Idioma: en.
Resumo: Background: Cutaneous melanoma (CM) is the most aggressive subtype of skin cancer, with increasing incidence over the past several decades. DNA methylation is a key element of several biological processes such as genomic imprinting, cell differentiation and senescence, and deregulation of this mechanism has been implicated in several diseases, including cancer. In order to understand the relationship of DNA methylation in CMs, we searched for an epigenetic signature of cutaneous melanomas by comparing the DNA methylation profiles between tumours and benign melanocytes, the precursor cells of CM. Methods: We used 20 primary CMs and three primary cell cultures of melanocytes as a discovery cohort. The tumours mutational background was collected as previously reported. Methylomes were obtained using the HM450K DNA methylation assay, and differential methylation analysis was performed. DNA methylation data of CMs from TCGA were recovered to validate our findings. Results: A signature of 514 differentially methylated genes (DMGs) was evident in CMs compared to melanocytes, which was independent of the presence of driver mutations. Pathway analysis of this CM signature revealed an enrichment of proteins involved in the binding of DNA regulatory regions (hypermethylated sites), and related to transmembrane signal transducer activities (hypomethylated sites). The methylation signature was validated in an independent dataset of primary CMs, as well as in lymph node and distant metastases (correlation of DNA methylation level: r > 0,95; Pearson's test: p < 2.2e-16). Conclusions: CMs exhibited a DMGs signature, which was independent of the mutational background and possibly established prior to genetic alterations. This signature provides important insights into how epigenetic deregulation contributes to melanomagenesis in general (AU)
Descritores:
Neoplasias Cutâneas
Transdução de Sinais
Metilação de DNA
Proteínas de Ligação a DNA
Transcriptoma/genética
Melanoma
Limites: Humanos
Masculino
Feminino
Responsável: BR30.1 - Biblioteca


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Id: lil-775212
Autor: Barros, Guilherme Monteiro de; Kakehasi, Adriana Maria.
Título: Anormalidades esqueléticas da síndrome tricorrinofalangiana tipo I / Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I
Fonte: Rev. bras. reumatol;56(1):86-89, jan.-fev. 2016. graf.
Idioma: en.
Resumo: Resumo A síndrome tricorrinofalangiana (STRF) tipo I é uma doença genética rara, relacionada com a mutação no gene TRPS1 do cromossomo 8. É caracterizada por anomalias craniofaciais e distúrbios na formação e maturação da matriz óssea. As características são cabelos ralos e quebradiços, tendência à calvície prematura, nariz bulboso em formato de pera, filtro nasal longo e plano e baixa implantação das orelhas. As alterações esqueléticas mais notáveis são a clinodactilia, as epífises das falanges das mãos em forma de cone, a baixa estatura e as malformações na articulação do quadril. Relata-se o caso de um adolescente diagnosticado com STRF e encaminhado para avaliação reumatológica em decorrência de queixas articulares.

Abstract The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.
Descritores: Fatores de Transcrição/genética
Síndrome de Langer-Giedion/diagnóstico
Síndrome de Langer-Giedion/genética
Nariz/anormalidades
Artralgia/etiologia
Proteínas de Ligação a DNA/genética
Doenças do Cabelo/diagnóstico
Doenças do Cabelo/genética
-Síndrome
Síndrome de Langer-Giedion/fisiopatologia
Nariz/fisiopatologia
Artralgia/genética
Falanges dos Dedos da Mão/anormalidades
Dedos/anormalidades
Dedos/fisiopatologia
Doenças do Cabelo/fisiopatologia
Limites: Humanos
Masculino
Adolescente
Tipo de Publ: Relatos de Casos
Responsável: BR1.1 - BIREME


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Morcillo, André Moreno
Vassallo, José
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Id: biblio-954547
Autor: Honma, Helen Naemi; Perroud Jr, Maurício Wesley; Morcillo, André Moreno; Vassallo, José; Zambon, Lair.
Título: Response to cytotoxic chemotherapy and overall survival in non-small cell lung cancer patients with positive or negative ERCC1 expression / Resposta à quimioterapia citotóxica e sobrevida global em pacientes com câncer de pulmão não pequenas células com expressão positiva ou negativa para ERCC1
Fonte: J. bras. pneumol;44(3):245-246, May-June 2018. tab.
Idioma: en.
Descritores: Carcinoma Pulmonar de Células não Pequenas/mortalidade
Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico
Carcinoma Pulmonar de Células não Pequenas/química
Proteínas de Ligação a DNA/análise
Endonucleases/análise
Neoplasias Pulmonares/química
-Fatores de Tempo
Imuno-Histoquímica
Cisplatino/uso terapêutico
Resultado do Tratamento
Paclitaxel/uso terapêutico
Neoplasias Pulmonares/mortalidade
Neoplasias Pulmonares/tratamento farmacológico
Antineoplásicos/uso terapêutico
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Idoso
Tipo de Publ: Carta
Responsável: BR1.1 - BIREME


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Silveira, Alda Maria Soares
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Id: lil-623691
Autor: Rumjanek, Franklin David; Braga, Vania Maria Martins; Silveira, Alda Maria Soares; Rabelo, Elida Mara L; Campos, Elida Geralda; Rodriguez, Vanderlei.
Título: Genomic regulation in imature females of Schistosoma mansoni
Fonte: Mem. Inst. Oswaldo Cruz;82(supl.4):209-212, 1987. ilus.
Idioma: en.
Conferência: Apresentado em: International Symposium on Schistosomiasis, Apresentado em: Reunião Nacional de Esquistossomose, 1, Rio de Janeiro, Oct. 25-30, 1987.
Descritores: Schistosoma mansoni/fisiologia
Regulação da Expressão Gênica
Receptores de Superfície Celular/análise
-Schistosoma mansoni/genética
Maturidade Sexual
Proteínas de Ligação a DNA
Limites: Animais
Feminino
Responsável: BR1.1 - BIREME


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Id: biblio-1022489
Autor: Ilicheva, Nadya V; Travina, Aleksandra O; Voronin, Alexey P; Podgornaya, Olga I.
Título: Development and characterization of polyclonal antibodies against the linker region of the telomere-binding protein TRF2
Fonte: Electron. j. biotechnol;32:1-5, Mar. 2018. ilus.
Idioma: en.
Projeto: RFBR; . RSF.
Resumo: Background: TRF2 (telomeric repeat binding factor 2) is an essential component of the telomere-binding protein complex shelterin. TRF2 induces the formation of a special structure of telomeric DNA and counteracts activation of DNA damage-response pathways telomeres. TRF2 has a poorly characterized linker region (udTRF2) between its homodimerization and DNA-binding domains. Some lines of evidence have shown that this region could be involved in TRF2 interaction with nuclear lamina. Results: In this study, the fragment of the TERF2 gene encoding udTRF2 domain of telomere-binding protein TRF2 was produced by PCR and cloned into the pET32a vector. The resulting plasmid pET32a-udTRF2 was used for the expression of the recombinant udTRF2 in E. coli RosettaBlue (DE3). The protein was isolated and purified using ammonium sulfate precipitation followed by ion-exchange chromatography. The purified recombinant protein udTRF2 was injected into guinea pigs to generate polyclonal antibodies. The ability of anti-udTRF2 antibodies to bind endogenous TRF2 in human skin fibroblasts was tested by western blotting and immunofluorescent staining. Conclusions: In this study, the recombinant protein udTRF2 and antibodies to it were generated. Both protein and antibodies will provide a useful tool for investigation of the functions of the udTRF2 domain and its role in the interaction between TRF2 and nuclear lamina.
Descritores: Proteína 2 de Ligação a Repetições Teloméricas/metabolismo
Anticorpos/metabolismo
-Plasmídeos
Proteínas Recombinantes/metabolismo
Imuno-Histoquímica
Western Blotting
Cromossomos
Clonagem Molecular
Lâmina Nuclear
Proteína 2 de Ligação a Repetições Teloméricas/genética
Imunoprecipitação
Proteínas de Ligação a DNA/metabolismo
Escherichia coli/metabolismo
Anticorpos/isolamento & purificação
Formação de Anticorpos
Nucleoproteínas
Limites: Animais
Cobaias
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-889120
Autor: Sun, Qing-Qing; Hua, Dong-Jin; Huang, Si-Chao; Cen, Han; Zhou, Li; Shao, Song.
Título: Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;51(7):e7126, 2018. tab.
Idioma: en.
Projeto: National Natural Science Foundation; . Nature Science Foundation; . Ningbo University Talent Project.
Resumo: This study was performed to examine whether the AF4/FMR2 family, member 1 (AFF1) rs340630 polymorphism is involved in the genetic background of rheumatoid arthritis (RA) in a Chinese population. Two different study groups of RA patients and controls (328 RA patients and 449 healthy controls in the first study group; 232 RA patients and 313 controls in the second study group) were included in our study. Overall, there was no significant difference in either genotype (P=0.71 and 0.64 in the first and second study group, respectively) nor allele (in the first study group: A vs G, P=0.65, OR=1.05, 95%CI=0.85-1.29; in the second study group: G vs A, P=0.47, OR=1.10, 95%CI=0.86-1.40) frequencies of AFF1 rs340630 polymorphism between RA patients and controls. Our study represents the first report assessing the association of AFF1 rs340630 polymorphism with RA risk. No significant evidence was found for the dominant or recessive models. Further case-control studies with larger sample sizes and fine-mapping studies are needed to clarify the role of AFF1 in the genetic basis of RA.
Descritores: Polimorfismo Genético/genética
Artrite Reumatoide/genética
Predisposição Genética para Doença/genética
Fatores de Elongação da Transcrição/genética
Proteínas de Ligação a DNA/genética
-Estudos de Casos e Controles
Grupo com Ancestrais do Continente Asiático
Frequência do Gene
Genótipo
Limites: Humanos
Masculino
Feminino
Pessoa de Meia-Idade
Responsável: BR1.1 - BIREME


  7 / 81 LILACS  
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Id: biblio-888946
Autor: Guo, N; Zhang, N; Yan, L; Cao, X; Lv, F; Wang, J; Wang, Y; Cong, H.
Título: Down-regulation of single-stranded DNA-binding protein 1 expression induced by HCMV infection promotes lipid accumulation in cells
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;50(11):e6389, 2017. tab, graf.
Idioma: en.
Resumo: The objective of this study was to observe the infection of human cytomegalovirus (HCMV) to human umbilical vein endothelial cells, and its effect on the expression of single-stranded DNA-binding protein (SSBP1) and on lipid metabolism in endothelial cells. We screened the differential expression of mRNAs after HCMV infection by suppression subtractive hybridization and the expression levels of SSBP1 mRNA and protein after HCMV infection by real-time PCR and western blot. After verification of successful infection by indirect immunofluorescent staining and RT-PCR, we found a differential expression of lipid metabolism-related genes including LDLR, SCARB, CETP, HMGCR, ApoB and LPL induced by HCMV infection. The expression levels of SSBP1 mRNA and protein after HCMV infection were significantly down-regulated. Furthermore, we found that upregulation of SSBP1 inhibited the expression of atherosclerosis-associated LDLR, SCARB, HMGCR, CETP as well as the accumulation of lipids in the cells. The results showed that the inhibition of SSBP1 by HCMV infection promotes lipid accumulation in the cells.
Descritores: Infecções por Citomegalovirus/metabolismo
Proteínas de Ligação a DNA/metabolismo
Células Endoteliais da Veia Umbilical Humana/metabolismo
Células Endoteliais da Veia Umbilical Humana/virologia
Metabolismo dos Lipídeos/fisiologia
Proteínas Mitocondriais/metabolismo
-Aterosclerose/metabolismo
Aterosclerose/virologia
Proteínas de Transferência de Ésteres de Colesterol/metabolismo
Colesterol/análise
Proteínas de Ligação a DNA/genética
Regulação para Baixo
Hidroximetilglutaril-CoA Redutases/metabolismo
Metabolismo dos Lipídeos/genética
Proteínas Mitocondriais/genética
Receptores de LDL/metabolismo
Receptores Depuradores Classe B/metabolismo
Fatores de Tempo
Limites: Humanos
Responsável: BR1.1 - BIREME


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Id: lil-788945
Autor: Zamberlan, D C; Amaral, G P; Arantes, L P; Machado, M L; Mizdal, C R; Campos, M M A; Soares, F A A.
Título: Rosmarinus officinalis L. increases Caenorhabditis elegans stress resistance and longevity in a DAF-16, HSF-1 and SKN-1-dependent manner
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;49(9):e5235, 2016. tab, graf.
Idioma: en.
Projeto: PRONEM/FAPERGS; . CNPq Universal.
Resumo: Improving overall health and quality of life, preventing diseases and increasing life expectancy are key concerns in the field of public health. The search for antioxidants that can inhibit oxidative damage in cells has received a lot of attention. Rosmarinus officinalis L. represents an exceptionally rich source of bioactive compounds with pharmacological properties. In the present study, we explored the effects of the ethanolic extract of R. officinalis (eeRo) on stress resistance and longevity using the non-parasitic nematode Caenorhabditis elegans as a model. We report for the first time that eeRo increased resistance against oxidative and thermal stress and extended C. elegans longevity in an insulin/IGF signaling pathway-dependent manner. These data emphasize the eeRo beneficial effects on C. elegans under stress.
Descritores: Caenorhabditis elegans/efeitos dos fármacos
Longevidade/efeitos dos fármacos
Estresse Oxidativo/efeitos dos fármacos
Rosmarinus/química
Estresse Fisiológico/efeitos dos fármacos
-Proteínas de Caenorhabditis elegans/efeitos dos fármacos
Proteínas de Ligação a DNA/efeitos dos fármacos
Fatores de Transcrição Forkhead/efeitos dos fármacos
Transdução de Sinais/efeitos dos fármacos
Fatores de Transcrição/efeitos dos fármacos
Limites: Animais
Responsável: BR1.1 - BIREME


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Texto completo SciELO Saúde Pública
Szwarcwald, Célia Landmann
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Id: lil-776702
Autor: Malta, Deborah Carvalho; Iser, Betine Pinto Moehlecke; Chueiri, Patricia Sampaio; Stopa, Sheila Rizzato; Szwarcwald, Celia Landmann; Schmidt, Maria Inês; Duncan, Bruce Bartholow.
Título: Cuidados em saúde entre portadores de diabetes mellitus autorreferido no Brasil, Pesquisa Nacional de Saúde, 2013 / Health care among adults with self-reported diabetes mellitus in Brazil, National Health Survey, 2013
Fonte: Rev. bras. epidemiol;18(supl.2):17-32, Out.-Dez. 2015. tab, graf.
Idioma: en.
Resumo: Resumo: Objetivo: Descrever medidas do cuidado assistencial destinadas ao paciente com diabetes mellitus autorreferido no Brasil. Métodos: Foram utilizados dados da Pesquisa Nacional de Saúde(2013), estudo transversal de base populacional, referentes ao cuidado em saúde com o diabetes mellitus autorreferido, quanto ao uso de serviços de saúde e acesso a medicamentos. Resultados: A prevalência de diabetes mellitus autorreferido foi de 6,2%, e 11,5% da população nunca fez uma glicemia na vida. Dos adultos que referiram diabetes mellitus , 80,2% tomaram medicamentos nas duas semanas anteriores à entrevista, 57,4% usaram o Programa Farmácia Popular, 73,2% receberam assistência médica e 47,1% realizaram o atendimento nas Unidades Básicas de Saúde. Em 65,2%, o médico que atendeu na última consulta era o mesmo das consultas anteriores, 95,3% dos pacientes conseguiram realizar os exames complementares solicitados e 83,3% conseguiram fazer as consultas com o médico especialista. A avaliação de pés e olhos foi relatada por 35,6 e 29,1% dos portadores de diabetes mellitus , respectivamente. Relataram internação hospitalar por causa do diabetes ou de alguma complicação 13,4% dos adultos, e outros 7,0% relataram limitações nas atividades diárias. Em geral, mulheres, assim como a população mais idosa, de maior escolaridade, brancos e residentes nas regiões Sul e Sudeste, tiveram maior prevalência da doença e maior acesso aos serviços, medicamentos e consultas. Discussão: Os cuidados aos portadores de diabetes foram recebidos de forma adequada, na maioria dos casos, o que é essencial para manter a qualidade de vida dos pacientes e prevenir desfechos mais graves.

Abstract: Objective: To describe the care measurements provided to patients with self-reported diabetes mellitus in Brazil. Methods: Data from the Brazilian National Health Survey (2013) were used. This is a cross-sectional population-based study in which the subjects with self-reported diabetes mellitus answered questions concerning their use of health services and access to medicine. Results: The prevalence of self-reported diabetes mellitus was 6.2%, while 11.5% of the population had never undergone a glucose testing. From the adults with diabetes mellitus, 80.2% had taken medications two weeks before the interview, 57.4% used the Popular Pharmacy Program, 73.2% received medical care, and 47.1% were cared for in the Health Basic Units. In 65.2%, the physician who cared for them in the last appointment was the same from previous ones, 95.3% of the patients were able to perform the required complementary examinations, and 83.3% could go to the appointments with a specialist. About 35.6 and 29.1% of the subjects with diabetes mellitus reported feet and eyes examination, respectively. About 13.4% declared previous hospitalization owing to diabetes or any complications, and 7.0% mentioned limitations in their daily activities owing to the disease. In general, women and the elderly people, those with higher education levels, white, and those living in the south and southeastern regions showed a higher prevalence of the disease and greater access to services, medicine, and appointments. Discussion: The care reported by patients with diabetes, which is essential to maintain their quality of life and prevent serious outcomes, seemed, in most cases, to be adequate.
Descritores: Proteínas de Ligação a DNA/genética
Vírus da Hepatite B/fisiologia
Hepatite B Crônica/genética
Peptídeos e Proteínas de Sinalização Intracelular/genética
Proteínas Nucleares/genética
Polimorfismo de Nucleotídeo Único
-Grupo com Ancestrais do Continente Asiático/etnologia
Grupo com Ancestrais do Continente Asiático/genética
China/etnologia
Predisposição Genética para Doença
Genótipo
Hepatite B Crônica/etnologia
Hepatite B Crônica/virologia
Limites: Adolescente
Adulto
Idoso
Feminino
Humanos
Masculino
Pessoa de Meia-Idade
Adulto Jovem
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-767920
Autor: Siqueira, Pedro Freire de; Mathez, Andréia Latanza Gomes; Pedretti, Denize Borges; Abucham, Julio.
Título: Pituitary metastasis of lung neuroendocrine carcinoma: case report and literature review
Fonte: Arch. endocrinol. metab. (Online);59(6):548-553, Dec. 2015. tab, graf.
Idioma: en.
Resumo: SUMMARY Metastasis to the pituitary gland is an unusual situation in clinical practice, but the frequency thereof is increasing due to the increased survival of cancer patients, and greater availability of imaging. In most cases, they are found between the sixth and seventh decades of life, as determined in image examination of patients with known malignant neoplasm, but, generally, asymptomatic with respect to pituitary involvement. The most common primary sites are breast in women and lung in men. We present the case of a 64-year-old patient with clinical visual changes, polyuria, polydipsia, and decreased level of consciousness whose tests showed pan-hypopituitarism, hypernatremia and low urine specific gravity, and extensive mass in sellar region. Diabetes insipidus was confirmed and treated, corticotrophic and thyroid deficits were corrected and then the patient underwent resection by transsphenoidal surgery. The histopathological and immunohistochemistry analysis revealed pituitary metastasis of lung neuroendocrine tumor. Subsequently, a chest CT scan showed pulmonary mass consistent with primary neoplasm. Despite the water and electrolyte correction and intravenous glucocorticoid replacement, the patient continued to show decreased level of consciousness due to compression of the brain stem by the pituitary mass, evolving to death. The purpose is to call attention to the differential diagnosis of invasive lesions of the sellar region, mainly in individuals over 50 years and/or when associated with diabetes insipidus, as it may be a case of metastasis, although there is no known primary neoplasm. Arch Endocrinol Metab. 2015;59(6):548-53.
Descritores: Carcinoma Neuroendócrino/secundário
Neoplasias Pulmonares/patologia
Neoplasias Hipofisárias/secundário
-Biópsia
Estado de Consciência
Proteínas de Ligação a DNA/isolamento & purificação
Evolução Fatal
Imuno-Histoquímica
Limites: Feminino
Humanos
Pessoa de Meia-Idade
Tipo de Publ: Relatos de Casos
Revisão
Responsável: BR1.1 - BIREME



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