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  1 / 375560 MEDLINE  
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[PMID]:29173737
[Au] Autor:Peris TS; Rozenman MS; Sugar CA; McCracken JT; Piacentini J
[Ad] Dirección:UCLA Semel Institute for Neuroscience and Human Behavior, Los Angeles. Electronic address: tperis@mednet.ucla.edu.
[Ti] Título:Targeted Family Intervention for Complex Cases of Pediatric Obsessive-Compulsive Disorder: A Randomized Controlled Trial.
[So] Fuente:J Am Acad Child Adolesc Psychiatry;56(12):1034-1042.e1, 2017 Dec.
[Is] ISSN:1527-5418
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:OBJECTIVE: Although evidence-based treatments for pediatric obsessive-compulsive disorder (OCD) exist, many youth fail to respond, and interventions tailored to the needs of specific subsets of patients are lacking. This study examines the efficacy of a family intervention module designed for cases of OCD complicated by poor family functioning. METHOD: Participants were 62 youngsters aged 8 to 17 years (mean age = 12.71 years; 57% male; 65% white) with a primary diagnosis of OCD and at least 2 indicators of poor family functioning. They were randomized to receive 12 sessions of individual child cognitive-behavioral therapy (CBT) plus weekly parent psychoeducation and session review (standard treatment [ST]) or the same 12 child sessions plus 6 sessions of family therapy aimed at improving OCD-related emotion regulation and problem solving (positive family interaction therapy [PFIT]). Blinded raters evaluated outcomes and tracked responders to 3-month follow-up. RESULTS: Compared to ST, PFIT demonstrated better overall response rates on the Clinician Global Impression-Improvement scale (CGI-I; 68% versus 40%, p = .03, φ = 0.28) and rates of remission (58% PFIT versus 27% ST, p = .01, φ = 0.32). PFIT also produced significantly greater reductions in functional impairment, symptom accommodation, and family conflict, and improvements in family cohesion. As expected, these shifts in family functioning constitute an important treatment mechanism, with changes in accommodation mediating treatment response. CONCLUSION: PFIT is efficacious for reducing OCD symptom severity and impairment and for improving family functioning. Findings are discussed in terms of personalized medicine and mechanisms of change in pediatric OCD treatment. Clinical trial registration information-Family Focused Treatment of Pediatric Obsessive Compulsive Disorder; http://clinicaltrials.gov/; NCT01409642.
[Mh] Términos MeSH primario: Terapia Cognitiva/métodos
Terapia Familiar/métodos
Trastorno Obsesivo Compulsivo/terapia
Padres/educación
[Mh] Términos MeSH secundario: Adolescente
Niño
Terapia Combinada
Relaciones Familiares
Femenino
Estudios de Seguimiento
Seres Humanos
Masculino
Trastorno Obsesivo Compulsivo/diagnóstico
Escalas de Valoración Psiquiátrica
Método Simple Ciego
Resultado del Tratamiento
[Pt] Tipo de publicación:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Em] Mes de ingreso:1802
[Cu] Fecha actualización por clase:180311
[Lr] Fecha última revisión:180311
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:171128
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE


  2 / 375560 MEDLINE  
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[PMID]:27771785
[Au] Autor:Ke Y; Ng T; Yeo HL; Shwe M; Gan YX; Chan A
[Ad] Dirección:Department of Pharmacy, National University of Singapore, Blk S4A level 3, 18 Science Drive 4, Singapore, 117543, Singapore.
[Ti] Título:Psychometric properties and measurement equivalence of the English and Chinese versions of the Beck Anxiety Inventory in patients with breast cancer.
[So] Fuente:Support Care Cancer;25(2):633-643, 2017 02.
[Is] ISSN:1433-7339
[Cp] País de publicación:Germany
[La] Idioma:eng
[Ab] Resumen:BACKGROUND: There is a lack of psychometric data for both the English and Chinese versions of Beck Anxiety Inventory (BAI) to support its usage among breast cancer patients. This study examined the psychometric properties and measurement equivalence of the English and Chinese versions of BAI among breast cancer patients in Singapore. METHODS: Patients were recruited from two major cancer centers in Singapore. The criterion and construct validity of BAI was assessed by its correlation strength with (1) the emotional functioning subdomain of EORTC QLQ-C30 and (2) constructs related to anxiety, namely fatigue, dyspnea, and quality of life. The known-group validity was assessed according to the patients' breast cancer stage, religious beliefs, and emotional functioning levels. The internal consistency of the BAI domains was evaluated using Cronbach's alpha coefficient. Regression analysis was performed to compare the BAI total and domain scores between the two language versions. RESULTS: Data from 244 patients (144 English-speaking and 100 Chinese-speaking) were analyzed. For both language versions, the BAI total scores correlated moderately with the EORTC QLQ-C30 emotional functioning subdomain (r = -0.655 and -0.601). Correlations with fatigue, quality of life, and dyspnea were moderate (|r| = 0.456-0.606). Patients with poorer emotional functioning reported higher anxiety levels, establishing known-group validity. All BAI domains demonstrated satisfactory internal consistencies (α = 0.74-0.87), except for the panic domain (α = 0.57-0.61). Possible measurement equivalence between the language versions was established. CONCLUSION: Both English and Chinese versions of BAI are valid, reliable, and possibly equivalent for future use.
[Mh] Términos MeSH primario: Ansiedad/psicología
Grupo de Ascendencia Continental Asiática/psicología
Neoplasias de la Mama/psicología
Psicometría/métodos
Calidad de Vida/psicología
[Mh] Términos MeSH secundario: Femenino
Seres Humanos
Lenguaje
Mediana Edad
Estudios Prospectivos
Reproducibilidad de los Resultados
Encuestas y Cuestionarios
[Pt] Tipo de publicación:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mes de ingreso:1710
[Cu] Fecha actualización por clase:180310
[Lr] Fecha última revisión:180310
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:161025
[St] Status:MEDLINE
[do] DOI:10.1007/s00520-016-3452-3


  3 / 375560 MEDLINE  
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[PMID]:29444082
[Au] Autor:Khan MI; Su YK; Zou J; Yang LW; Chou RH; Yu C
[Ad] Dirección:National Tsing Hua University, Chemistry Department, Hsinchu, Taiwan.
[Ti] Título:S100B as an antagonist to block the interaction between S100A1 and the RAGE V domain.
[So] Fuente:PLoS One;13(2):e0190545, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:Ca2+-binding human S100A1 protein is a type of S100 protein. S100A1 is a significant mediator during inflammation when Ca2+ binds to its EF-hand motifs. Receptors for advanced glycation end products (RAGE) correspond to 5 domains: the cytoplasmic, transmembrane, C2, C1, and V domains. The V domain of RAGE is one of the most important target proteins for S100A1. It binds to the hydrophobic surface and triggers signaling transduction cascades that induce cell growth, cell proliferation, and tumorigenesis. We used nuclear magnetic resonance (NMR) spectroscopy to characterize the interaction between S100A1 and the RAGE V domain. We found that S100B could interact with S100A1 via NMR 1H-15N HSQC titrations. We used the HADDOCK program to generate the following two binary complexes based on the NMR titration results: S100A1-RAGE V domain and S100A1-S100B. After overlapping these two complex structures, we found that S100B plays a crucial role in blocking the interaction site between RAGE V domain and S100A1. A cell proliferation assay WST-1 also supported our results. This report could potentially be useful for new protein development for cancer treatment.
[Mh] Términos MeSH primario: Antígenos de Neoplasias/metabolismo
Proteínas Quinasas Activadas por Mitógenos/metabolismo
Subunidad beta de la Proteína de Unión al Calcio S100/fisiología
Proteínas S100/metabolismo
[Mh] Términos MeSH secundario: Calcio/metabolismo
Seres Humanos
Interacciones Hidrofóbicas e Hidrofílicas
Resonancia Magnética Nuclear Biomolecular
Unión Proteica
Transducción de Señales
[Pt] Tipo de publicación:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nombre de substancia:
0 (Antigens, Neoplasm); 0 (S100 Calcium Binding Protein beta Subunit); 0 (S100 Proteins); 0 (S100A1 protein); 0 (S100B protein, human); EC 2.7.11.22 (MOK protein, human); EC 2.7.11.24 (Mitogen-Activated Protein Kinases); SY7Q814VUP (Calcium)
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:180215
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190545


  4 / 375560 MEDLINE  
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[PMID]:29431936
[Au] Autor:Gildenskiold RS; Tatyanyuk TK; Savelyev SI; Rekis VK
[Ti] Título:[The possibility of provision of hygienically safe residing for the population in residential construction located closely to air transport enterprises].
[So] Fuente:Gig Sanit;95(11):1029-32, 2016.
[Is] ISSN:0016-9900
[Cp] País de publicación:Russia (Federation)
[La] Idioma:rus
[Ab] Resumen:Operation of the modern heavy aircraft on the surrounding vast territory is associated with the appearance of high levels of sound pressure generated by the powerful engines, especially during takeoff and landing operations. Currently, the elimination or significant reduction of noise pollution on the environment technically does not yet have a radical solution and the possible reduction of the impact ofnoise pollution on the residents ofnearby settlements is achievedfor residents of building by the optimal location of the runway, changing in conditions for the takeoff and landing of aircrafts, the ordering of the regimen of the airport, the introduction of the package sufficiently effective anti-noise diverse - engineering, planning activities, in some cases, the creation ofprotective noise shield on the border of the residential area and the construction ofprotective awnings over the children's and sports fields with fencing shields converted in the direction of the runway. An example of a positive decision, taking into account the complexity and variety of aspects of the problem, it is possible to consider the development of the project plan of the new microdistrict «Eletsky¼ in the Soviet district of the city of Lipetsk, falling under the impact of aircraft noise of plying aircrafts of the military airfield.
[Mh] Términos MeSH primario: Aviación
Planificación en Salud/organización & administración
Vivienda
Ruido/prevención & control
[Mh] Términos MeSH secundario: Aeronaves
Aeropuertos/normas
Aviación/métodos
Aviación/organización & administración
Ambiente Controlado
Vivienda/organización & administración
Vivienda/normas
Seres Humanos
Desarrollo Industrial
Ruido del Transporte/efectos adversos
Ruido del Transporte/prevención & control
Salud Pública/métodos
Federación de Rusia
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:180213
[St] Status:MEDLINE


  5 / 375560 MEDLINE  
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[PMID]:29409851
[Au] Autor:Tan M; Li G; Qi S; Liu X; Chen X; Ma J; Zhang D; Han M
[Ad] Dirección:College of Horticulture, Northwest A & F University, Yangling, Shaanxi 712100, China.
[Ti] Título:Identification and expression analysis of the IPT and CKX gene families during axillary bud outgrowth in apple (Malus domestica Borkh.).
[So] Fuente:Gene;651:106-117, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicación:Netherlands
[La] Idioma:eng
[Ab] Resumen:Cytokinins (CKs) play a crucial role in promoting axillary bud outgrowth and targeting the control of CK metabolism can be used to enhance branching in plants. CK levels are maintained mainly by CK biosynthesis (isopentenyl transferase, IPT) and degradation (dehydrogenase, CKX) genes in plants. A systematic study of the IPT and CKX gene families in apple, however, has not been conducted. In the present study, 12 MdIPTs and 12 MdCKXs were identified in the apple genome. Systematic phylogenetic, structural, and synteny analyses were performed. Expression analysis of these genes in different tissues was also assessed. MdIPT and MdCKX genes exhibit distinct expression patterns in different tissues. The response of MdIPT, MdCKX, and MdPIN1 genes to various treatments (6-BA, decapitation and Lovastatin, an inhibitor of CKs synthesis) that impact branching were also investigated. Results indicated that most of the MdIPT and MdCKX, and MdPIN1 genes were upregulated by 6-BA and decapitation treatment, but inhibited by Lovastatin, a compound that effectively suppresses axillary bud outgrowth induced by decapitation. These findings suggest that cytokinin biosynthesis is required for the activation of bud break and the export of auxin from buds in apple tree with intact primary shoot apex or decapitated apple tree. MdCKX8 and MdCKX10, however, exhibited little response to decapitation, but were significantly up-regulated by 6-BA and Lovastatin, a finding that warrants further investigation in order to understand their function in bud-outgrowth.
[Mh] Términos MeSH primario: Transferasas Alquil y Aril/genética
Genes de Plantas
Malus/genética
Oxidorreductasas/genética
[Mh] Términos MeSH secundario: Arabidopsis/genética
Compuestos de Bencilo/farmacología
Mapeo Cromosómico
Cromosomas de las Plantas
Evolución Molecular
Flores/genética
Perfilación de la Expresión Génica
Regulación de la Expresión Génica de las Plantas
Genoma de Planta
Lovastatina/farmacología
Malus/enzimología
Malus/crecimiento & desarrollo
Familia de Multigenes
Filogenia
Reguladores del Crecimiento de las Plantas
Purinas/farmacología
Sintenía
Regulación hacia Arriba
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (Benzyl Compounds); 0 (Plant Growth Regulators); 0 (Purines); 9LHU78OQFD (Lovastatin); EC 1.- (Oxidoreductases); EC 1.5.99.12 (cytokinin oxidase); EC 2.5.- (Alkyl and Aryl Transferases); EC 2.5.1.27 (adenylate isopentenyltransferase); KXG6A989PS (benzylaminopurine)
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:180208
[St] Status:MEDLINE


  6 / 375560 MEDLINE  
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[PMID]:29391275
[Au] Autor:Yang X; Wang J; Bing G; Bie P; De Y; Lyu Y; Wu Q
[Ad] Dirección:Key Laboratory of Animal Epidemiology and Zoonosis of the Ministry of Agriculture, College of Veterinary Medicine, China Agricultural University, Beijing 100193, China.
[Ti] Título:Ortholog-based screening and identification of genes related to intracellular survival.
[So] Fuente:Gene;651:134-142, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicación:Netherlands
[La] Idioma:eng
[Ab] Resumen:Bioinformatics and comparative genomics analysis methods were used to predict unknown pathogen genes based on homology with identified or functionally clustered genes. In this study, the genes of common pathogens were analyzed to screen and identify genes associated with intracellular survival through sequence similarity, phylogenetic tree analysis and the λ-Red recombination system test method. The total 38,952 protein-coding genes of common pathogens were divided into 19,775 clusters. As demonstrated through a COG analysis, information storage and processing genes might play an important role intracellular survival. Only 19 clusters were present in facultative intracellular pathogens, and not all were present in extracellular pathogens. Construction of a phylogenetic tree selected 18 of these 19 clusters. Comparisons with the DEG database and previous research revealed that seven other clusters are considered essential gene clusters and that seven other clusters are associated with intracellular survival. Moreover, this study confirmed that clusters screened by orthologs with similar function could be replaced with an approved uvrY gene and its orthologs, and the results revealed that the usg gene is associated with intracellular survival. The study improves the current understanding of intracellular pathogens characteristics and allows further exploration of the intracellular survival-related gene modules in these pathogens.
[Mh] Términos MeSH primario: Bacterias/genética
Fenómenos Fisiológicos Bacterianos
Células/microbiología
Genes Bacterianos
[Mh] Términos MeSH secundario: Animales
Proteínas Bacterianas/genética
Proteínas Bacterianas/fisiología
Células Cultivadas
Genes Esenciales
Interacciones Huésped-Patógeno
Ratones
Familia de Multigenes
Filogenia
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (Bacterial Proteins)
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:180203
[St] Status:MEDLINE


  7 / 375560 MEDLINE  
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[PMID]:29380037
[Au] Autor:Miyashita N; Onozawa M; Hayasaka K; Yamada T; Migita O; Hata K; Okada K; Goto H; Nakagawa M; Hashimoto D; Kahata K; Kondo T; Kunishima S; Teshima T
[Ad] Dirección:Department of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo, 0608638, Japan.
[Ti] Título:A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbß3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.
[So] Fuente:Ann Hematol;97(4):629-640, 2018 Apr.
[Is] ISSN:1432-0584
[Cp] País de publicación:Germany
[La] Idioma:eng
[Ab] Resumen:We identified a novel heterozygous ITGB3 p.T720del mutation in a pedigree with macrothrombocytopenia exhibiting aggregation dysfunction. Platelet aggregation induced by ADP and collagen was significantly reduced, while ristocetin aggregation was normal. Integrin αIIbß3 was partially activated in a resting status, but platelet expression of αIIbß3 was downregulated. Functional analysis using a cell line showed spontaneous phosphorylation of FAK in αIIb/ß3 (p.T720del)-transfected 293T cells in suspension conditions. Abnormal cytoplasmic protrusions, membrane ruffling, and cytoplasmic localization of αIIbß3 were observed in αIIb/ß3 (p.T720del)-transfected CHO cells. Such morphological changes were reversed by treatment with an FAK inhibitor. These findings imply spontaneous, but partial, activation of αIIbß3 followed by phosphorylation of FAK as the initial mechanism of abnormal thrombopoiesis. Internalization and decreased surface expression of αIIbß3 would contribute to aggregation dysfunction. We reviewed the literature of congenital macrothrombocytopenia associated with heterozygous ITGA2B or ITGB3 mutations. Reported mutations were highly clustered at the membrane proximal region of αIIbß3, which affected the critical interaction between αIIb R995 and ß3 D723, resulting in a constitutionally active form of the αIIbß3 complex. Macrothrombocytopenia caused by a heterozygous activating mutation of ITGA2B or ITGB3 at the membrane proximal region forms a distinct entity of rare congenital thrombocytopenia.
[Mh] Términos MeSH primario: Eliminación de Gen
Genes Dominantes
Heterocigoto
Integrina beta3/genética
Complejo GPIIb-IIIa de Glicoproteína Plaquetaria/agonistas
Trombocitopenia/genética
[Mh] Términos MeSH secundario: Adulto
Animales
Células CHO
Cricetulus
Salud de la Familia
Femenino
Células HEK293
Seres Humanos
Integrina beta3/metabolismo
Japón
Masculino
Mediana Edad
Mutagénesis Sitio-Dirigida
Linaje
Complejo GPIIb-IIIa de Glicoproteína Plaquetaria/metabolismo
Proteínas Recombinantes/metabolismo
Trombocitopenia/sangre
Trombocitopenia/metabolismo
Trombocitopenia/fisiopatología
Adulto Joven
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (ITGB3 protein, human); 0 (Integrin beta3); 0 (Platelet Glycoprotein GPIIb-IIIa Complex); 0 (Recombinant Proteins)
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:180131
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-017-3214-4


  8 / 375560 MEDLINE  
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[PMID]:29346428
[Au] Autor:Wong YK; Wong WW; Lui KFH; Wong AC
[Ad] Dirección:Department of Educational Psychology, Faculty of Education, The Chinese University of Hong Kong, Shatin, Hong Kong.
[Ti] Título:Revisiting facial resemblance in couples.
[So] Fuente:PLoS One;13(1):e0191456, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:It is widely believed that couples look alike. Consistently, previous research reported higher facial similarity for couples than non-couples, and that facial similarity predicts marital satisfaction. However, it is unclear if facial similarity in couples shown in previous studies was solely driven by extrinsic features like hairstyle, glasses, etc. Also unclear is what attributes are perceived as similar from the faces of a couple. In three experiments, we showed that faces were considered more similar in couples than non-couples even without extrinsic features. Personality and age perceived from faces were also more similar in couples. Importantly, by matching pairs of faces according to their perceived personality, we found that a higher similarity in the perceived personality of a face pair led to higher facial similarity and couple likelihood ratings. These findings suggest that, instead of a result of pure physical analyses, facial similarity in couples is partly based on active social cognitive judgments on perceived personality, which may reveal the actual personality of the couples and thus inform relationship quality.
[Mh] Términos MeSH primario: Cara
Composición Familiar
Reconocimiento Visual de Modelos
[Mh] Términos MeSH secundario: Adolescente
Adulto
Femenino
Seres Humanos
Masculino
Mediana Edad
Adulto Joven
[Pt] Tipo de publicación:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:180119
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191456


  9 / 375560 MEDLINE  
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[PMID]:29287889
[Au] Autor:Cesca F; Bettella E; Polli R; Cama E; Scimemi P; Santarelli R; Murgia A
[Ad] Dirección:Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy.
[Ti] Título:A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
[So] Fuente:Int J Pediatr Otorhinolaryngol;104:88-93, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicación:Ireland
[La] Idioma:eng
[Ab] Resumen:OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. RESULTS: A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects. CONCLUSION: The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member.
[Mh] Términos MeSH primario: Sordera/genética
Pérdida Auditiva Sensorineural/genética
Factor de Transcripción PAX3/genética
Transactivadores/genética
Síndrome de Waardenburg/genética
[Mh] Términos MeSH secundario: Adulto
Audiometría
Niño
Familia
Femenino
Secuenciación de Nucleótidos de Alto Rendimiento
Seres Humanos
Masculino
Mutación
Linaje
Fenotipo
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (EYA4 protein, human); 0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (Trans-Activators)
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:171231
[St] Status:MEDLINE


  10 / 375560 MEDLINE  
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[PMID]:29236908
[Au] Autor:Baggio GI; Hage SRV
[Ad] Dirección:Centro de Ciências Humanas, Universidade do Sagrado Coração - USC - Bauru (SP), Brasil.
[Ti] Título:Translation and cultural adaptation of the Aguado Syntax Test (AST) into Brazilian Portuguese.
[Ti] Título:Tradução e adaptação cultural para o português do TSA - Test de Sintaxis de Aguado..
[So] Fuente:Codas;29(6):e20170052, 2017 Dec 07.
[Is] ISSN:2317-1782
[Cp] País de publicación:Brazil
[La] Idioma:por; eng
[Ab] Resumen:PURPOSE: To perform the translation and cultural adaptation of the Aguado Syntax Test (AST) into Brazilian Portuguese considering the linguistic and cultural reality of the language. METHODS: The AST assesses the early morphosyntactic development in children aged 3 to 7 in terms of understanding and expression of various types of structures such as sentences, pronouns, verbal voices, comparisons, prepositions and verbal desinence as to number, mode and tense. The process of translation and cultural adaptation followed four steps: 1) preparation of two translations; 2) synthesis of consensual translations; 3) backtranslation; and 4) verification of equivalence between the initial translations and backtranslations that resulted in the final translated version. RESULTS: The whole process of translation and cultural adaptation revealed the presence of equivalence and reconciliation of the translated items and an almost complete semantic equivalence between the two translations and the absence of consistent translation difficulties. CONCLUSION: The AST was translated and culturally adapted into Brazilian Portuguese, constituting the first step towards validation and standardization of the test.
[Mh] Términos MeSH primario: Lenguaje
Semántica
Encuestas y Cuestionarios
Traducciones
[Mh] Términos MeSH secundario: Brasil
Niño
Preescolar
Comparación Transcultural
Femenino
Seres Humanos
Masculino
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:171214
[St] Status:MEDLINE



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