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2.
Ann Surg Oncol ; 20(1): 111-9, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22878615

RESUMO

BACKGROUND: Autologous lipoaspirate grafting (ALAG) has become a widely used treatment in breast reconstruction after mastectomy (MST) or breast-conserving treatment (BCT), although there is an ongoing debate about its oncological safety. The aim of this systematic review was to identify, evaluate, and synthesize all clinical evidence examining the oncological risks associated with the procedure. METHODS: An extensive electronic search was performed in PubMed, Embase, and the Cochrane Library using the keywords "breast" and "autologous lipoaspirate grafting" and synonyms. RESULTS: The search yielded a total of 269 unique hits. Twenty clinical trials investigated ALAG in breast reconstruction after cancer. Although nine of them provided oncological follow-up data, only one retrospective cohort and four case series were suitable for analysis. The former reported no significant differences in the locoregional recurrence (LRR) incidence rates between the intervention and control groups for patients with MST as well as BCT. A large multicenter case series reported LRR incidence rates of 1.35 and 2.19 for MST and BCT patients, respectively. The remaining two series were far smaller trials with shorter follow-up and reported no recurrences. No randomized, controlled trials were identified. Most of the available studies consisted of cohorts and case series with short follow-up and no control subjects. CONCLUSIONS: Although the first reports on cancer recurrence after ALAG are inconclusive, they show promising results. Whether lipoaspirate grafting promotes LRR in breast cancer patients is still unclear. To be able to answer this question, larger prospective trials with longer follow-up are needed.


Assuntos
Tecido Adiposo/transplante , Neoplasias da Mama/cirurgia , Mamoplastia/efeitos adversos , Mamoplastia/métodos , Recidiva Local de Neoplasia/etiologia , Feminino , Humanos , Mastectomia
3.
Genet Couns ; 22(1): 49-53, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21614988

RESUMO

Campomelic dysplasia (CD, MIM 114290) is a rare, often lethal, dominantly inherited, congenital skeletal dysplasia, associated with male-to-female autosomal sex reversal and due to de novo mutations of the SOX9 gene, a tissue-specific transcription factor gene involved both in skeletogenesis and male sexual differentiation. Here we report on a 4 months-old 46,XY sex reversed infant with typical clinical features for CD due to a novel mutation of the SOX9 gene, Q401X, leading to synthesis of a truncated SOX9 protein that completely lacks the C-terminal transactivation domain.


Assuntos
Anormalidades Múltiplas/genética , Displasia Campomélica/genética , Aberrações Cromossômicas , Códon sem Sentido/genética , Disgenesia Gonadal 46 XY/genética , Fatores de Transcrição SOX9/genética , Anormalidades Múltiplas/diagnóstico , Displasia Campomélica/diagnóstico , Análise Mutacional de DNA , Evolução Fatal , Feminino , Triagem de Portadores Genéticos , Disgenesia Gonadal 46 XY/diagnóstico , Humanos , Lactente , Recém-Nascido , Cariotipagem , Masculino , Gravidez , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/genética
4.
Rapid Commun Mass Spectrom ; 21(18): 3093-102, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17705255

RESUMO

A method to control the duty cycle of a time-of-flight mass spectrometer is described. The method relies on one or more ion gates placed in the beam path that have the function to transmit or stop the beam. These ion gates can switch from the open state to the closed state in tens of nanoseconds and effectively select portions of the mass range. The method is useful in circumstances where recording the complete mass spectrum is not an essential requirement, for example, in the analysis of known compounds where sensitivity and speed of operation are more important. It will be of benefit for applications in separation sciences with techniques involving fast chromatographic separations, where hundreds of mass spectra may be required per second. In such circumstances analytical identification may require only a limited number of masses (or mass regions) to be continuously monitored. Improvement of the duty cycle is particularly important for orthogonal-acceleration time-of-flight (oa-TOF) mass spectrometry instruments whose performance suffers from a low duty cycle. The duty cycle is not a constant for an instrument design but is a mass-dependent function and is least for smaller masses. The method described here is capable of raising the duty cycle to 100%. A theory is developed for one or more ion gate arrangements, for both linear- and reflectron-TOF systems. For a two-gate system the relationship between the positions of the first and second gates is described by a '2/3 rule'. Experimental results are shown for one-gate and two-gate operation, both in linear and in reflectron modes of operation, on an oa-TOF system built in-house.


Assuntos
Desenho Assistido por Computador , Espectrometria de Massas por Ionização por Electrospray/instrumentação , Espectrometria de Massas por Ionização por Electrospray/métodos , Desenho de Equipamento , Análise de Falha de Equipamento , Íons , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
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