Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 5 de 5
Filtrar
1.
BMC Cancer ; 15: 215, 2015 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-25886519

RESUMO

BACKGROUND: Germline DNA mutations that increase the susceptibility of a patient to certain cancers have been identified in various genes, and patients can be screened for mutations in these genes to assess their level of risk for developing cancer. Traditional methods using Sanger sequencing focus on small groups of genes and therefore are unable to screen for numerous genes from several patients simultaneously. The goal of the present study was to validate a 25-gene panel to assess genetic risk for cancer in 8 different tissues using next generation sequencing (NGS) techniques. METHODS: Twenty-five genes associated with hereditary cancer syndromes were selected for development of a panel to screen for risk of these cancers using NGS. In an initial technical assessment, NGS results for BRCA1 and BRCA2 were compared with Sanger sequencing in 1864 anonymized DNA samples from patients who had undergone previous clinical testing. Next, the entire gene panel was validated using parallel NGS and Sanger sequencing in 100 anonymized DNA samples. Large rearrangement analysis was validated using NGS, microarray comparative genomic hybridization (CGH), and multiplex ligation-dependent probe amplification analyses (MLPA). RESULTS: NGS identified 15,877 sequence variants, while Sanger sequencing identified 15,878 in the BRCA1 and BRCA2 comparison study of the same regions. Based on these results, the NGS process was refined prior to the validation of the full gene panel. In the validation study, NGS and Sanger sequencing were 100% concordant for the 3,923 collective variants across all genes for an analytical sensitivity of the NGS assay of >99.92% (lower limit of 95% confidence interval). NGS, microarray CGH and MLPA correctly identified all expected positive and negative large rearrangement results for the 25-gene panel. CONCLUSION: This study provides a thorough validation of the 25-gene NGS panel and indicates that this analysis tool can be used to collect clinically significant information related to risk of developing hereditary cancers.


Assuntos
Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Síndromes Neoplásicas Hereditárias/epidemiologia , Síndromes Neoplásicas Hereditárias/genética , Hibridização Genômica Comparativa , Biologia Computacional/métodos , Testes Genéticos , Genômica/métodos , Mutação em Linhagem Germinativa , Humanos , Mutação , Reprodutibilidade dos Testes , Risco , Sensibilidade e Especificidade
2.
Semin Plast Surg ; 33(1): 59-66, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30863214

RESUMO

Free tissue transfer serves as a modern workhorse for breast reconstruction. Advancements in microsurgical technique have allowed for the development of free flap procedures that produce an aesthetic breast while minimizing donor site morbidity. Here, the authors review the use of different free flap procedures for breast reconstruction with a focus on the preferred and most commonly used flap, the deep inferior epigastric perforator flap. Each flap has its advantages and drawbacks, and certain patient risk factors increase postoperative complications. Other techniques of breast reconstruction including pedicled flaps and adjunctive fat grafting are also briefly discussed.

3.
J Eval Clin Pract ; 23(4): 741-746, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28127832

RESUMO

INTRODUCTION: The American Heart Association and Choosing Wisely campaign recommend guideline-based usage of telemetry. Inappropriate use leads to increased costs, alarm fatigue, and inefficient nursing care. This study assesses provider ordering practices for telemetry at a US-based academic hospital. METHODS: This retrospective study includes all telemetry orders in the medicine and progressive care units from April 2014 to March 2015. Indications were grouped into categories per American Heart Association guidelines. RESULTS: The top 3 cardiac indications included angina/acute coronary syndrome (35.3%), arrhythmias (19.7%), and heart failure (10.2%). However, noncardiac indications accounted for 20.2% of orders, including respiratory conditions (17.4%), infection (17.4%), substance abuse (14.0%), bleeding (12.4%), vital sign monitoring (10.4%), altered mental status (7.0%), and pulmonary embolus/deep vein thrombosis (7.0%). CONCLUSIONS: One-fifth of patients were monitored on telemetry for noncardiac indications. We recommend further study on the benefits and risks of telemetry in these patients and systems-based changes for appropriate usage.


Assuntos
Centros Médicos Acadêmicos/estatística & dados numéricos , Serviço Hospitalar de Cardiologia/estatística & dados numéricos , Cardiopatias/diagnóstico , Unidades de Terapia Intensiva/estatística & dados numéricos , Telemetria/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , American Heart Association , Feminino , Cardiopatias/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estados Unidos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA