RESUMEN
LEOPARD syndrome with multiple lentigines (cardiomyopathic lentiginosis) is a rare, genetically predetermined disease with autosomal dominant inheritance. Prevalence of this syndrome is unknown. One of pathognomonic clinical manifestations of this syndrome is the presence of multiple lentiginous pigment spots all over the body. The most common cardiac manifestation (approximately 80%) is myocardial hypertrophy. We presented a rare clinical case of detecting LEOPARD syndrome with multiple lentigines in a 32-year old female patient with major manifestations evident as pronounces morpho-functional alterations, myocardial hypertrophy, and heart rhythm disorders.
Asunto(s)
Síndrome LEOPARD , Adulto , Femenino , Corazón , HumanosRESUMEN
Heart sarcoidosis diagnosis presents great difficulties due to the absence of specific clinical manifestations. Most often, the diagnosis is established during autopsy. Magnetic resonance imaging (MRI) of the heart with contrast enhancement is one of the most informative methods of intravital diagnosis of cardiac sarcoidosis. In this article, two clinical cases, shows the role of MRI of the heart with contrast enhancement in the diagnosis of cardiac sarcoidosis.
Asunto(s)
Cardiomiopatías , Imagen por Resonancia Magnética , Sarcoidosis , Cardiomiopatías/diagnóstico por imagen , Corazón/diagnóstico por imagen , Humanos , Sarcoidosis/diagnóstico por imagenRESUMEN
AIM: To enhance the efficiency of diagnosis of breast tumors by comprehensive magnetic resonance imaging (MRI) involving dynamic contrast-enhanced magnetic resonance mammography (MRM) and magnetic resonance spectroscopy (MRS). SUBJECTS AND METHODS: Eighty-seven women aged 32 to 75 years with breast neoplasms were examined. MRM was performed on a Philips Achieva 3.0T TX scanner. The MRI protocol consisted of axial fat-suppressed T1- and T2-weighted spin-echo images and 8 postcontrast dynamic series. Changes in contrast-enhanced MRI of breast cancer (BC) were estimated by constructing the signal intensity-time curves. MRS was carried out using a PRESS sequence. RESULTS: Dynamic MRM determined type III signal intensity-time curve in 83.9% of the patients with BC and type II curve in 16.1% of those with breast malignancies and in 33.3% of those with breast fibroadenomas. Type I signal intensity-time curve was identified in 66.7% of the cases of fibroadenomas. Elevated choline concentrations in the malignancies were detected in 17.7% of cases. Their tumors were larger than 2 cm. The choline peak in the malignancies could not be revealed in the other cases, which was associated to the large voxel size exceeding the mass size. There was a drastic fall in the signal-to-noise ratio with smaller voxel sizes. Furthermore, higher choline levels were determined in 9.5% of the fibroadenoma cases. Comparison of MRS findings before and after contrast injection revealed the advantage of the latter, which is primarily attributed to the more accurate voxel position on the tumor than that during non-contrast-enhanced MRS. CONCLUSION: Dynamic intravenous contrast-enhanced MRM is an effective method for the differential diagnosis of breast masses. MRS cannot be included in the standard study protocol for women with breast masses for the present.
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Neoplasias de la Mama/diagnóstico , Imagen por Resonancia Magnética/normas , Mamografía/normas , Adulto , Anciano , Neoplasias de la Mama/patología , Medios de Contraste , Femenino , Humanos , Aumento de la Imagen , Imagen por Resonancia Magnética/instrumentación , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética/instrumentación , Espectroscopía de Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética/normas , Mamografía/instrumentación , Mamografía/métodos , Persona de Mediana EdadRESUMEN
The leading risk factors of breast cancer (BC) were found to affect the efficiency of mammographic screening. The BC screening covered 26 912 women in 2001-2010. Its risk factors were identified using a questionnaire survey. During the BC screening, all the women underwent mammography in the frontal and oblique projections. The BIRADS scale was used to evaluate breast X-ray density. The performed examination revealed that the number of risk factors for BC directly affected its stage. The diagnostic efficiency of screening mammography was found to decline in the groups of patients with high breast X-ray density. The paper provides evidence that it is important to monitor groups of patients having BC risk factors and that it is expedient to estimate breast X-ray density. The frequency of BRCA1/2 gene mutations was determined in patients with BC identified during the mammographic screening. A relationship was found between the diagnosis of end-stage BC and the presence of BRCA1/2 gene mutations.
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Neoplasias de la Mama/epidemiología , Genes BRCA1 , Genes BRCA2 , Mamografía/métodos , Tamizaje Masivo/métodos , Mutación , Medición de Riesgo/métodos , Adulto , Factores de Edad , Anciano , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/genética , Análisis Mutacional de ADN , ADN de Neoplasias/análisis , Diagnóstico Diferencial , Femenino , Predisposición Genética a la Enfermedad , Humanos , Incidencia , India/epidemiología , Persona de Mediana Edad , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Magnetic resonance spectroscopy (MRS) is used in mammalogy to specify the data obtained by traditional radiodiagnostic techniques and provides a possibility of estimating the molecular composition of pathologically altered breast tissues. This information is employed for the differential diagnosis of malignant and benign neoplasms, as well as for monitoring and predicting the efficiency of chemotherapy for breast cancer. Some technical problems and the lack of a standardized approach to the procedure of a study and interpretation of its results hinder the wide introduction of spectroscopy into clinical practice. This paper reviews the data available in the literature on proton MRS and the technical and clinical aspects of application of this technique.