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[PMID]: 29198722 [Au] Autor: Palmer EE; Kumar R; Gordon CT; Shaw M; Hubert L; Carroll R; Rio M; Murray L; Leffler M; Dudding-Byth T; Oufadem M; Lalani SR; Lewis AM; Xia F; Tam A; Webster R; Brammah S; Filippini F; Pollard J; Spies J; Minoche AE; Cowley MJ; Risen S; Powell-Hamilton NN; Tusi JE; Immken L; Nagakura H; Bole-Feysot C; Nitschké P; Garrigue A; de Saint Basile G; Kivuva E; Scott RH; Rendon A; Munnich A; Newman W; Kerr B; Besmond C; Rosenfeld JA; Amiel J; Field M; Gecz J; DDD Study [Ad] Endereço: Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia. [Ti] Título: A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. [So] Source: Am J Hum Genet;101(6):995-1005, 2017 Dec 07. [Is] ISSN: 1537-6605 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C>T [p.Arg913Ter]) in the penultimate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and peripheral nervous system symptoms but an absence of frontonasal or limb malformations. We show that the c.2737C>T variant does not trigger nonsense-mediated decay of the ZSWIM6 mRNA in affected individual-derived cells. This finding supports the existence of a truncated ZSWIM6 protein lacking the Sin3-like domain, which could have a dominant-negative effect. This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes. [Mh] Termos MeSH primário: Proteínas de Ligação a DNA/genética Deficiência Intelectual/genética Transtornos Neurocognitivos/genética [Mh] Termos MeSH secundário: Sistema Nervoso Central/anormalidades Sistema Nervoso Central/embriologia Códon sem Sentido/genética Sequenciamento de Nucleotídeos em Larga Escala Seres Humanos Deformidades Congênitas dos Membros/genética Disostose Mandibulofacial/genética Sistema Nervoso Periférico/anormalidades Sistema Nervoso Periférico/enzimologia [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Codon, Nonsense); 0 (DNA-Binding Proteins); 0 (ZSWIM6 protein, human) [Em] Mês de entrada: 1801 [Cu] Atualização por classe: 180222 [Lr] Data última revisão: 180222 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171205 [St] Status: MEDLINE

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[PMID]: 29246538 [Au] Autor: Ranieri M; Vivo M; De Simone M; Guerrini L; Pollice A; La Mantia G; Calabrò V [Ad] Endereço: Department of Developmental and Molecular Biology Albert Einstein College of Medicine, United States. [Ti] Título: Sumoylation and ubiquitylation crosstalk in the control of ΔNp63α protein stability. [So] Source: Gene;645:34-40, 2018 Mar 01. [Is] ISSN: 1879-0038 [Cp] País de publicação: Netherlands [La] Idioma: eng [Ab] Resumo: ΔNp63α is finely and strictly regulated during embryogenesis and differentiation. ΔNp63α is the only p63 isoform degraded by the proteasome after Ubiquitin and SUMO (Small Ubiquitin-like MOdifier) conjugation. Here, we show that p63 ubiquitylation per se is not the signal triggering p63 proteasomal degradation. Taking advantage of natural ΔNp63α mutants isolated by patients with Split Hand and Foot Malformation IV syndrome, we found that SUMO and Ub modifications are not redundant and both are required to guarantee efficient ΔNp63α degradation. Here, we present evidence that sumoylation and ubiquitylation of ΔNp63α are strongly intertwined, and none of the two can efficiently occur if the other is impaired. [Mh] Termos MeSH primário: Fatores de Transcrição/química Fatores de Transcrição/metabolismo Proteínas Supressoras de Tumor/química Proteínas Supressoras de Tumor/metabolismo [Mh] Termos MeSH secundário: Linhagem Celular Células HEK293 Seres Humanos Deformidades Congênitas dos Membros/genética Peso Molecular Mutação Complexo de Endopeptidases do Proteassoma/química Complexo de Endopeptidases do Proteassoma/metabolismo Estabilidade Proteica Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/metabolismo Sumoilação Fatores de Transcrição/genética Proteínas Supressoras de Tumor/genética Ubiquitina/metabolismo Ubiquitinação [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Small Ubiquitin-Related Modifier Proteins); 0 (TP63 protein, human); 0 (Transcription Factors); 0 (Tumor Suppressor Proteins); 0 (Ubiquitin); EC 3.4.25.1 (Proteasome Endopeptidase Complex) [Em] Mês de entrada: 1801 [Cu] Atualização por classe: 180129 [Lr] Data última revisão: 180129 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171217 [St] Status: MEDLINE

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[PMID]: 29080750 [Au] Autor: Mo D; Zhao Y; Balajee AS [Ad] Endereço: Chinese Academy of Science, Beijing Institute of Genomics, Beijing CN 100029, China; University of Chinese Academy of Sciences, Beijing 100049, China. [Ti] Título: Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells. [So] Source: Cancer Lett;413:1-10, 2018 Jan 28. [Is] ISSN: 1872-7980 [Cp] País de publicação: Ireland [La] Idioma: eng [Ab] Resumo: Human RecQ helicases that share homology with E. coli RecQ helicase play critical roles in diverse biological activities such as DNA replication, transcription, recombination and repair. Mutations in three of the five human RecQ helicases (RecQ1, WRN, BLM, RecQL4 and RecQ5) result in autosomal recessive syndromes characterized by accelerated aging symptoms and cancer incidence. Mutational inactivation of Werner (WRN) and Bloom (BLM) genes results in Werner syndrome (WS) and Bloom syndrome (BS) respectively. However, mutations in RecQL4 result in three human disorders: (I) Rothmund-Thomson syndrome (RTS), (II) RAPADILINO and (III) Baller-Gerold syndrome (BGS). Cells from WS, BS and RTS are characterized by a unique chromosomal anomaly indicating that each of the RecQ helicases performs specialized function(s) in a non-redundant manner. Elucidating the biological functions of RecQ helicases will enable us to understand not only the aging process but also to determine the cause for age-associated human diseases. Recent biochemical and molecular studies have given new insights into the multifaceted roles of RecQL4 that range from genomic stability to carcinogenesis and beyond. This review summarizes some of the existing and emerging knowledge on diverse biological functions of RecQL4 and its significance as a potential molecular target for cancer therapy. [Mh] Termos MeSH primário: Canal Anal/anormalidades Biomarcadores Tumorais/metabolismo Transformação Celular Neoplásica/metabolismo Craniossinostoses/enzimologia Nanismo/enzimologia Instabilidade Genômica Comunicação Interatrial/enzimologia Deformidades Congênitas dos Membros/enzimologia Neoplasias/enzimologia Patela/anormalidades Rádio (Anatomia)/anormalidades RecQ Helicases/metabolismo Síndrome de Rothmund-Thomson/enzimologia [Mh] Termos MeSH secundário: Canal Anal/enzimologia Antineoplásicos/uso terapêutico Biomarcadores Tumorais/antagonistas & inibidores Biomarcadores Tumorais/genética Proliferação Celular Transformação Celular Neoplásica/genética Transformação Celular Neoplásica/patologia Craniossinostoses/genética Reparo do DNA Replicação do DNA DNA Mitocondrial/genética DNA Mitocondrial/metabolismo Nanismo/genética Inibidores Enzimáticos/uso terapêutico Predisposição Genética para Doença Comunicação Interatrial/genética Seres Humanos Deformidades Congênitas dos Membros/genética Mutação Neoplasias/tratamento farmacológico Neoplasias/genética Neoplasias/patologia Patela/enzimologia Fenótipo Rádio (Anatomia)/enzimologia RecQ Helicases/antagonistas & inibidores RecQ Helicases/genética Síndrome de Rothmund-Thomson/genética [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 0 (Antineoplastic Agents); 0 (Biomarkers, Tumor); 0 (DNA, Mitochondrial); 0 (Enzyme Inhibitors); EC 3.6.1.- (RECQL4 protein, human); EC 3.6.4.12 (RecQ Helicases) [Em] Mês de entrada: 1712 [Cu] Atualização por classe: 171204 [Lr] Data última revisão: 171204 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171030 [St] Status: MEDLINE

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[PMID]: 29080836 [Au] Autor: Chen J; Yang J; Zhao S; Ying H; Li G; Xu C [Ad] Endereço: Department of Child Health, Xiamen Maternal and Child Health Hospital, Xiamen, Fujian, China; Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China. [Ti] Título: Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia. [So] Source: Gene;641:355-360, 2018 Jan 30. [Is] ISSN: 1879-0038 [Cp] País de publicação: Netherlands [La] Idioma: eng [Ab] Resumo: BACKGROUND: Hypochondroplasia (HCH; OMIM 146000) is a common autosomal dominant skeletal dysplasia characterized by disproportionate short stature, short extremities, relative macrocephaly, and lumbar lordosis. Because of its clinical and genetic heterogeneity, gene mutational analysis is particularly important in diagnosis and the phenotypes may be ameliorated if diagnosed early. MATERIALS AND METHODS: In this study, we examined a Chinese family with HCH, performed an inductive analysis of their clinical features and radiographic results, and applied targeted exome sequencing (TES) technology to perform a molecular diagnosis. RESULTS: The proband and his mother all presented disproportionate short stature, short, stubby extremities, unchanged interpedicular distances from L1-L5, and short iliac bones, with a 'fish mouth-shaped' sciatic notch. The mother received induced abortion recently because an ultrasound showed short femur length of her fetus at 24-week gestation. Eventually, a novel heterozygous mutation (c.1145G>A) in FGFR3 was identified by TES in the proband, his mother, and her fetus; this causes the substitution of glycine with aspartic acid in codon 382. CONCLUSIONS: In this study, we diagnosed a Chinese pedigree with HCH based on clinical data, radiographic features, and genetic testing results. Our results extend the genetic mutation spectrum of FGFR3 and demonstrate that TES is an effective method for the diagnosis of skeletal dysplasia in clinical practices. [Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética Osso e Ossos/anormalidades Nanismo/diagnóstico Nanismo/genética Deformidades Congênitas dos Membros/diagnóstico Deformidades Congênitas dos Membros/genética Lordose/diagnóstico Lordose/genética Mutação/genética Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética [Mh] Termos MeSH secundário: Adulto Ácido Aspártico/genética Criança Exoma/genética Glicina/genética Heterozigoto Seres Humanos Masculino Patologia Molecular/métodos Linhagem [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 30KYC7MIAI (Aspartic Acid); EC 2.7.10.1 (FGFR3 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 3); TE7660XO1C (Glycine) [Em] Mês de entrada: 1711 [Cu] Atualização por classe: 171128 [Lr] Data última revisão: 171128 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171030 [St] Status: MEDLINE

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[PMID]: 27777193 [Au] Autor: Hu XY; Yao YF; Cui BM; Lv J; Shen X; Ren B; Li MY; Guo Q; Huang RJ; Li Y [Ad] Endereço: State Key Laboratory of Oral Diseases, West China School of Stomatology, Sichuan University, Chengdu 610041, China. E-mail: drhuxiaoyu@163.com. [Ti] Título: [Analysis of causes and whole microbial structure in a case of rampant caries]. [So] Source: Nan Fang Yi Ke Da Xue Xue Bao;36(10):1328-1333, 2016 Oct 20. [Is] ISSN: 1673-4254 [Cp] País de publicação: China [La] Idioma: chi [Ab] Resumo: OBJECTIVE: To analyze the whole microbial structure in a case of rampant caries to provide evidence for its prevention and treatment. METHODS: Clinical samples including blood, supragingival plaque, plaque in the caries cavity, saliva, and mucosal swabs were collected with the patient's consent. The blood sample was sent for routine immune test, and the others samples were stained using Gram method and cultured for identifying colonies and 16S rRNA sequencing. DNA was extracted from the samples and tested for the main cariogenic bacterium (Streptococcus mutans) with qPCR, and the whole microbial structure was analyzed using DGGE. RESULTS: The patient had a high levels of IgE and segmented neutrophils in his blood. Streptococci with extremely long chains were found in the saliva samples under microscope. Culture of the samples revealed the highest bacterial concentration in the saliva. The relative content of hemolytic bacterium was detected in the samples, the highest in the caries cavity; C. albicans was the highest in the dental plaque. In addition, 33 bacterial colonies were identified by VITEK system and 16S rDNA sequence phylogenetic analysis, and among them streptococci and Leptotrichia wade were enriched in the dental plaque sample, Streptococcus mutans, Fusobacterium nucleatum, and Streptococcus tigurinus in the caries cavity, and Lactobacillus in the saliva. S. mutans was significantly abundant in the mucosal swabs, saliva and plaque samples of the caries cavity as shown by qPCR. Compared to samples collected from a healthy individual and another two patients with rampant caries, the samples from this case showed a decreased bacterial diversity and increased bacterial abundance shown by PCR-DGGE profiling, and multiple Leptotrichia sp. were detected by gel sequencing. CONCLUSION: The outgrowth of such pathogenic microorganisms as S. mutans and Leptotrichia sp., and dysbiosis of oral microbial community might contribute to the pathogenesis of rampant caries in this case. [Mh] Termos MeSH primário: Cárie Dentária/microbiologia Microbiota [Mh] Termos MeSH secundário: Anormalidades Múltiplas Placa Dentária/microbiologia Fusobacterium/isolamento & purificação Seres Humanos Imunoglobulina E/sangue Lactobacillus/isolamento & purificação Leptotrichia/isolamento & purificação Deformidades Congênitas dos Membros Mucosa Bucal/microbiologia Neutrófilos/citologia Filogenia Reação em Cadeia da Polimerase RNA Ribossômico 16S/genética Saliva/microbiologia Streptococcus/isolamento & purificação Anormalidades Dentárias [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (RNA, Ribosomal, 16S); 37341-29-0 (Immunoglobulin E) [Em] Mês de entrada: 1711 [Cu] Atualização por classe: 171128 [Lr] Data última revisão: 171128 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161026 [St] Status: MEDLINE

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[PMID]: 28926587 [Au] Autor: Weh E; Takeuchi H; Muheisen S; Haltiwanger RS; Semina EV [Ad] Endereço: Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America. [Ti] Título: Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. [So] Source: PLoS One;12(9):e0184903, 2017. [Is] ISSN: 1932-6203 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Peters Plus Syndrome (PPS) is a rare autosomal recessive disease characterized by ocular defects, short stature, brachydactyly, characteristic facial features, developmental delay and other highly variable systemic defects. Classic PPS is caused by loss-of-function mutations in the B3GLCT gene encoding for a ß3-glucosyltransferase that catalyzes the attachment of glucose via a ß1-3 glycosidic linkage to O-linked fucose on thrombospondin type 1 repeats (TSRs). B3GLCT was shown to participate in a non-canonical ER quality control mechanism; however, the exact molecular processes affected in PPS are not well understood. Here we report the identification and characterization of two zebrafish orthologs of the human B3GLCT gene, b3glcta and b3glctb. The b3glcta and b3glctb genes encode for 496-aa and 493-aa proteins with 65% and 57% identity to human B3GLCT, respectively. Expression studies demonstrate that both orthologs are widely expressed with strong presence in embryonic tissues affected in PPS. In vitro glucosylation assays demonstrated that extracts from wildtype embryos contain active b3glct enzyme capable of transferring glucose from UDP-glucose to an O-fucosylated TSR, indicating functional conservation with human B3GLCT. To determine the developmental role of the zebrafish genes, single and double b3glct knockouts were generated using TALEN-induced genome editing. Extracts from double homozygous b3glct-/- embryos demonstrated complete loss of in vitro b3glct activity. Surprisingly, b3glct-/- homozygous fish developed normally. Transcriptome analyses of head and trunk tissues of b3glct-/- 24-hpf embryos identified 483 shared differentially regulated transcripts that may be involved in compensation for b3glct function in these embryos. The presented data show that both sequence and function of B3GLCT/b3glct genes is conserved in vertebrates. At the same time, complete b3glct deficiency in zebrafish appears to be inconsequential and possibly compensated for by a yet unknown mechanism. [Mh] Termos MeSH primário: Glucosiltransferases/metabolismo Proteínas de Peixe-Zebra/metabolismo [Mh] Termos MeSH secundário: Sequência de Aminoácidos Animais Fenda Labial/genética Fenda Labial/patologia Córnea/anormalidades Córnea/patologia Embrião não Mamífero/metabolismo Edição de Genes Perfilação da Expressão Gênica Técnicas de Inativação de Genes Glucosiltransferases/deficiência Glucosiltransferases/genética Transtornos do Crescimento/genética Transtornos do Crescimento/patologia Seres Humanos Hibridização In Situ Deformidades Congênitas dos Membros/genética Deformidades Congênitas dos Membros/patologia Dados de Sequência Molecular Mutação Alinhamento de Sequência Nucleases dos Efetores Semelhantes a Ativadores de Transcrição/genética Peixe-Zebra Proteínas de Peixe-Zebra/deficiência Proteínas de Peixe-Zebra/genética [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Zebrafish Proteins); EC 2.4.1.- (1,3-alpha-D-glucan synthase); EC 2.4.1.- (Glucosyltransferases); EC 3.1.- (Transcription Activator-Like Effector Nucleases) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171025 [Lr] Data última revisão: 171025 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170920 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0184903

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[PMID]: 28846723 [Au] Autor: Soto-Rojas C; Suazo-Ortuño I; Montoya Laos JA; Alvarado-Díaz J [Ad] Endereço: Instituto de Investigaciones sobre los Recursos Naturales, Universidad Michoacana de San Nicolás de Hidalgo, Col. Nueva Esperanza, Morelia, Michoacán, México. [Ti] Título: Habitat quality affects the incidence of morphological abnormalities in the endangered salamander Ambystoma ordinarium. [So] Source: PLoS One;12(8):e0183573, 2017. [Is] ISSN: 1932-6203 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Identification of early warning signals previous to the occurrence of population decline or extinction is a major challenge for the conservation of animal species. Prevalence of morphological abnormalities in a population can be one of these signals. We registered morphological abnormalities in the salamander Ambystoma ordinarium. We also evaluated the relation between habitat quality and the prevalence of abnormalities in this species. We used scores from rapid bioassessment protocols (RBPs) to assess the habitat quality of streams inhabited by A. ordinarium. A preliminary survey indicated that of 29 streams where this species has been historically registered, 13 might have few or no A. ordinarium. The association between habitat quality and the incidence of morphological abnormalities was evaluated in these 16 streams. Of 502 sampled individuals, 224 (44.62%) had at least one body abnormality. Of the 224 individuals with body abnormalities, 84 (37.5%) presented more than one abnormality. Of a total of 5,522 evaluated morphological characters, 344 (6.74%) were abnormal. Partial loss of gills and missing digits were the most frequent abnormalities. Results of a binomial logistic regression indicated that the probability of a character of an individual to be abnormal was significantly associated with habitat quality; as the levels of the quality of the habitat increased, the prevalence of morphological abnormalities decreased. These results suggest that RBPs are a quick and useful method for assessing the habitat quality of streams inhabited by A. ordinarium. Given that RBPs provide rapid and cost-effective assessments of the ecological health of aquatic ecosystems, it will be important to test if the RBPs protocols can be used to rapidly assess habitat quality for other species of stream amphibians. The negative association between habitat quality and the prevalence of morpohological abnormalities that we found indicates that habitat condition plays an important role in the high number of abnormalities registered in A. ordinarium. Therefore, our results suggest that one of the several negative effects of habitat degradation on amphibians is an increase in the frequency of morphological abnormalities with marked consequences for the survival and general fitness of aquatic amphibians. [Mh] Termos MeSH primário: Ambystoma/anormalidades Ecossistema Brânquias/anormalidades Deformidades Congênitas dos Membros/veterinária [Mh] Termos MeSH secundário: Animais Conservação dos Recursos Naturais Incidência Deformidades Congênitas dos Membros/epidemiologia [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171019 [Lr] Data última revisão: 171019 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170829 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0183573

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[PMID]: 28832488 [Au] Autor: Committee on Obstetric Practice [Ti] Título: Committee Opinion No. 717: Sulfonamides, Nitrofurantoin, and Risk of Birth Defects. [So] Source: Obstet Gynecol;130(3):e150-e152, 2017 09. [Is] ISSN: 1873-233X [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: The evidence regarding an association between the nitrofuran and sulfonamide classes of antibiotics and birth defects is mixed. As with all patients, antibiotics should be prescribed for pregnant women only for appropriate indications and for the shortest effective duration. During the second and third trimesters, sulfonamides and nitrofurantoins may continue to be used as first-line agents for the treatment and prevention of urinary tract infections and other infections caused by susceptible organisms. Prescribing sulfonamides or nitrofurantoin in the first trimester is still considered appropriate when no other suitable alternative antibiotics are available. Pregnant women should not be denied appropriate treatment for infections because untreated infections can commonly lead to serious maternal and fetal complications. [Mh] Termos MeSH primário: Anormalidades Induzidas por Medicamentos/epidemiologia Anti-Infecciosos Urinários/efeitos adversos Deformidades Congênitas dos Membros/epidemiologia Nitrofurantoína/efeitos adversos Sulfonamidas/efeitos adversos [Mh] Termos MeSH secundário: Feminino Seres Humanos Deformidades Congênitas dos Membros/induzido quimicamente Obstetrícia Gravidez Fatores de Risco Sociedades Médicas Estados Unidos [Pt] Tipo de publicação: JOURNAL ARTICLE; PRACTICE GUIDELINE [Nm] Nome de substância: 0 (Anti-Infective Agents, Urinary); 0 (Sulfonamides); 927AH8112L (Nitrofurantoin) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170908 [Lr] Data última revisão: 170908 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170824 [St] Status: MEDLINE [do] DOI: 10.1097/AOG.0000000000002300

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[PMID]: 28832479 [Ti] Título: Committee Opinion No. 717 Summary: Sulfonamides, Nitrofurantoin, and Risk of Birth Defects. [So] Source: Obstet Gynecol;130(3):666-667, 2017 Sep. [Is] ISSN: 1873-233X [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: The evidence regarding an association between the nitrofuran and sulfonamide classes of antibiotics and birth defects is mixed. As with all patients, antibiotics should be prescribed for pregnant women only for appropriate indications and for the shortest effective duration. During the second and third trimesters, sulfonamides and nitrofurantoins may continue to be used as first-line agents for the treatment and prevention of urinary tract infections and other infections caused by susceptible organisms. Prescribing sulfonamides or nitrofurantoin in the first trimester is still considered appropriate when no other suitable alternative antibiotics are available. Pregnant women should not be denied appropriate treatment for infections because untreated infections can commonly lead to serious maternal and fetal complications. [Mh] Termos MeSH primário: Anormalidades Induzidas por Medicamentos/epidemiologia Anti-Infecciosos Urinários/efeitos adversos Deformidades Congênitas dos Membros/epidemiologia Nitrofurantoína/efeitos adversos Sulfonamidas/efeitos adversos [Mh] Termos MeSH secundário: Feminino Seres Humanos Deformidades Congênitas dos Membros/induzido quimicamente Obstetrícia Gravidez Fatores de Risco Sociedades Médicas Estados Unidos [Pt] Tipo de publicação: JOURNAL ARTICLE; PRACTICE GUIDELINE [Nm] Nome de substância: 0 (Anti-Infective Agents, Urinary); 0 (Sulfonamides); 927AH8112L (Nitrofurantoin) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170908 [Lr] Data última revisão: 170908 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170824 [St] Status: MEDLINE [do] DOI: 10.1097/AOG.0000000000002290

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[PMID]: 28797104 [Au] Autor: Zhang Y; Wei QS; Ding WB; Zhang LL; Wang HC; Zhu YJ; He W; Chai YN; Liu YW [Ad] Endereço: Medical Centre of Hip, Luoyang Orthopaedic-Traumatological Hospital (Orthopaedic Hospital of Henan Province), Luoyang, China. [Ti] Título: Increased microRNA-93-5p inhibits osteogenic differentiation by targeting bone morphogenetic protein-2. [So] Source: PLoS One;12(8):e0182678, 2017. [Is] ISSN: 1932-6203 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: BACKGROUND AND PURPOSE: Trauma-induced osteonecrosis of the femoral head (TIONFH) is a major complication of femoral neck fractures. Degeneration and necrosis of subchondral bone can cause collapse, which results in hip joint dysfunction in patients. The destruction of bone metabolism homeostasis is an important factor for osteonecrosis. MicroRNAs (miRNAs) have an important role in regulating osteogenic differentiation, but the mechanisms underlying abnormal bone metabolism of TIONFH are poorly understood. In this study, we screened specific miRNAs in TIONFH by microarray and further explored the mechanism of osteogenic differentiation. DESIGN: Blood samples from patients with TIONFH and patients without necrosis after trauma were compared by microarray, and bone collapse of necrotic bone tissue was evaluated by micro-CT and immunohistochemistry. To confirm the relationship between miRNA and osteogenic differentiation, we conducted cell culture experiments. We found that many miRNAs were significantly different, including miR-93-5p; the increase in this miRNA was verified by Q-PCR. Comparison of the tissue samples showed that miR-93-5p expression increased, and alkaline phosphatase (ALP) and osteopontin (OPN) levels decreased, suggesting miR-93-5p may be involved in osteogenic differentiation. Further bioinformatics analysis indicated that miR-93-5p can target bone morphogenetic protein 2 (BMP-2). A luciferase gene reporter assay was performed to confirm these findings. By simulating and/or inhibiting miR-93-5p expression in human bone marrow mesenchymal stem cells, we confirmed that osteogenic differentiation-related indictors, including BMP-2, Osterix, Runt-related transcription factor, ALP and OPN, were decreased by miR-93-5p. CONCLUSION: Our study showed that increased miR-93-5p in TIONFH patients inhibited osteogenic differentiation, which may be associated with BMP-2 reduction. Therefore, miR-93-5p may be a potential target for prevention of TIONFH. [Mh] Termos MeSH primário: Proteína Morfogenética Óssea 2/genética Fraturas do Colo Femoral/metabolismo Necrose da Cabeça do Fêmur/metabolismo MicroRNAs/fisiologia Osteogênese [Mh] Termos MeSH secundário: Anormalidades Múltiplas Adulto Sequência de Bases Sítios de Ligação Proteína Morfogenética Óssea 2/metabolismo Feminino Fraturas do Colo Femoral/complicações Fraturas do Colo Femoral/patologia Necrose da Cabeça do Fêmur/etiologia Necrose da Cabeça do Fêmur/patologia Células HEK293 Seres Humanos Deformidades Congênitas dos Membros Masculino Disostose Mandibulofacial Micrognatismo Meia-Idade Osteoblastos/fisiologia Interferência de RNA Análise de Sequência de DNA Adulto Jovem [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (BMP2 protein, human); 0 (Bone Morphogenetic Protein 2); 0 (MIRN93 microRNA, human); 0 (MicroRNAs) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171017 [Lr] Data última revisão: 171017 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170811 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0182678

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