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1.
Clin Radiol ; 72(10): 900.e1-900.e8, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28687167

RESUMO

AIM: To investigate an abbreviated, contrast-agent free diffusion-weighted (DW) breast magnetic resonance imaging (MRI) protocol that provides a single image for the radiologist to read in order to non-invasively examine Breast Imaging-Reporting and Data System (BI-RADS) 4 lesions detected using breast cancer screening X-ray mammography. MATERIALS AND METHODS: This retrospective evaluation within a institutional review board-approved, prospective study included 115 women (mean 57 years, range 50-69 years) with BI-RADS 4 findings on X-ray mammography and indication for biopsy over a period of 15 months. Full diagnostic breast MRI (FDP) was performed prior to biopsy (1.5 T). Maximum intensity breast diffusion (MIBD) images were generated from DW images (b = 1,500 mm/s2, 3 mm section thickness) of the breast. MIBD and T2-weighted (T2W) images were read by two radiologists and compared to the diagnostic accuracy of an expert reading of the FDP with histopathology as the reference standard. The acquisition time of MIBD and T2W MRI was about 7 minutes. RESULTS: MIBD MRI provided a diagnostic accuracy of 87.93% (95% confidence interval [CI]: 80.58-93.24%) for R1 and 89.66% (95% CI: 82.63-94.54%) for R2. Expert reading of the FDP revealed a similar accuracy of 86.2% (95% CI: 78.67-91.43%). The positive predictive value (PPV) could be increased from 36.2% (95% CI: 28.02-45.28; X-ray mammography alone) to a mean PPV of 80.89% (R1 79.17%, R2 82.16%) using MIBD MRI. Mean reading time was 30 seconds (25%/75 percentile 24.5-41.25). CONCLUSIONS: MIBD MRI might be of supplemental value if added to the work-up of BI-RADS 4 X-ray mammography screening findings. MIBD MRI might help reduce the false-positive rate prior to biopsy for reference lesions at only limited expense of measurement and reading time.


Assuntos
Neoplasias da Mama/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética/métodos , Mamografia/métodos , Idoso , Mama/diagnóstico por imagem , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade
2.
Vet J ; 187(1): 113-8, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20303304

RESUMO

Haemophilia B in Rhodesian Ridgebacks is currently the most important canine haemophilia in Germany. The aim of this study was to define the underlying genetic defect. Genetic studies were performed including six phenotypically affected male dogs (factor IX activity: approximately 1%), four suspected carriers (factor IX activity 48-69%, one confirmed by affected offspring), and 12 healthy dogs. Comparison of the entire coding region of the canine factor IX DNA sequences and exon-intron junctions from affected dogs with the wild type canine factor IX DNA revealed a G-A missense mutation in exon 7. This mutation results in a glycine (GGA) to glutamic acid (GAA) exchange in the catalytic domain of the haemophilic factor IX. All affected dogs were hemizygous for the detected mutation and carriers were heterozygous, whereas none of the Rhodesian Ridgebacks with normal factor IX activity showed the mutation. No further alterations in the sequences between affected dogs and the healthy control group could be observed. None of the Rhodesian Ridgebacks with undefined haemophilia B status (n=30) and no individual of three other dog breeds (Doberman Pinscher: n=20; German Wire haired Pointer: n=20; Labrador: n=25) showed the presence of the mutation. Amino acid sequence alignment and protein structural modelling analysis indicate that the detected mutation causes a relevant functional defect. The results of this study suggest that the detected mutation is responsible for a severe form of haemophilia B in Rhodesian Ridgebacks.


Assuntos
Doenças do Cão/genética , Fator IX/genética , Hemofilia B/veterinária , Mutação de Sentido Incorreto , Sequência de Aminoácidos , Animais , Cruzamento , Estudos de Casos e Controles , DNA/genética , DNA/isolamento & purificação , Cães , Éxons , Feminino , Hemofilia B/genética , Masculino , Dados de Sequência Molecular , Conformação Proteica , Alinhamento de Sequência
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