RESUMO
INTRODUCTION AND OBJECTIVES: According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ≥ 2 risk factors: male sex, left ventricular ejection fraction (LVEF) <45%, nonsustained ventricular tachycardia (NSVT), and nonmissense genetic variants. In this study we aimed to describe the clinical characteristics of carriers of LMNA genetic variants among individuals from a Spanish cardiac-laminopathies cohort (REDLAMINA registry) and to assess previously reported risk criteria. METHODS: The relationship between risk factors and cardiovascular events was evaluated in a cohort of 140 carriers (age ≥ 16 years) of pathogenic LMNA variants (54 probands, 86 relatives). We considered: a) major arrhythmic events (MAE) if there was appropriate ICD discharge or sudden cardiac death; b) heart failure death if there was heart transplant or death due to heart failure. RESULTS: We identified 11 novel and 21 previously reported LMNA-related DCM variants. LVEF <45% (P=.001) and NSVT (P <.001) were related to MAE, but not sex or type of genetic variant. The only factor independently related to heart failure death was LVEF <45% (P <.001). CONCLUSIONS: In the REDLAMINA registry cohort, the only predictors independently associated with MAE were NSVT and LVEF <45%. Therefore, female carriers of missense variants with either NSVT or LVEF <45% should not be considered a low-risk group. It is important to individualize risk stratification in carriers of LMNA missense variants, because not all have the same prognosis.
Assuntos
Laminopatias , Adolescente , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Desfibriladores Implantáveis , Feminino , Humanos , Masculino , Sistema de Registros , Fatores de Risco , Volume Sistólico , Taquicardia Ventricular , Função Ventricular EsquerdaRESUMO
Intestinal pneumatosis (presence of gas in the intestinal wall and in the portomeseteric veins) is an infrequent clinical situation that has been associated with extended bowel necrosis and fatal outcome. However, there are other reasons that can justify these findings without such an outcome. Recent advances in diagnostic imaging techniques, especially multislice computerized tomography (MSCT), have allowed precise and quick diagnosis of these entities. In this article, we review the MSCT radiological manifestations of intestinal pneumatosis, as well as the different diagnoses related with the findings observed in a patient diagnosed with esophageal carcinoma under chemotherapy treatment.
Assuntos
Gases , Enteropatias/diagnóstico por imagem , Tomografia Computadorizada Espiral , Adenocarcinoma/complicações , Adenocarcinoma/tratamento farmacológico , Adenocarcinoma/radioterapia , Anti-Infecciosos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Capecitabina , Terapia Combinada , Desoxicitidina/administração & dosagem , Desoxicitidina/efeitos adversos , Desoxicitidina/análogos & derivados , Docetaxel , Neoplasias Esofágicas/complicações , Neoplasias Esofágicas/tratamento farmacológico , Neoplasias Esofágicas/radioterapia , Fluoruracila/administração & dosagem , Fluoruracila/efeitos adversos , Fluoruracila/análogos & derivados , Humanos , Enteropatias/etiologia , Intestinos/irrigação sanguínea , Isquemia/induzido quimicamente , Isquemia/complicações , Veias Mesentéricas/diagnóstico por imagem , Mesentério/irrigação sanguínea , Compostos Organoplatínicos/administração & dosagem , Compostos Organoplatínicos/efeitos adversos , Oxaliplatina , Veia Porta/diagnóstico por imagem , Taxoides/administração & dosagem , Taxoides/efeitos adversosRESUMO
La neumatosis intestinal (presencia de gas en el interior de la pared intestinal y en el complejo venoso portomesentérico) es una situación clínica poco frecuente que ha sido característicamente relacionada con la isquemia intestinal y con un desenlace fatal. Existen otras causas que pueden justifi car estos hallazgos y cuya repercusión para el paciente no es inevitablemente trágica. Los avances recientes en técnicas de imagen, sobre todo en tomografía computarizada multicorte (TCMC), permiten un diagnóstico preciso fi able y precoz de estos hallazgos. En este artículo, repasamos las manifestaciones radiológicas de la neumatosis intestinal en TC así como las distintas causas relacionadas con esta entidad, en relación con los hallazgos presentes en un paciente diagnosticado de carcinoma de esófago y en tratamiento quimioterápico
Intestinal pneumatosis (presence of gas in the intestinal wall and in the portomeseteric veins) is an infrequent clinical situation that has been associated with extended bowel necrosis and fatal outcome. However, there are other reasons that can justify these fi ndings without such an outcome. Recent advances in diagnostic imaging techniques, especially multislice computerized tomography (MSCT), have allowed precise and quick diagnosis of these entities. In this article, we review the MSCT radiological manifestations of intestinal pneumatosis, as well as the different diagnoses related with the fi ndings observed in a patient diagnosed with esophageal carcinoma under chemotherapy treatment
Assuntos
Masculino , Pessoa de Meia-Idade , Humanos , Pneumatose Cistoide Intestinal/diagnóstico , Enfisema/diagnóstico , Neoplasias Esofágicas/complicações , Tomografia Computadorizada por Raios X/métodos , Isquemia/diagnósticoRESUMO
We report an infrequent mammographic case in which a gross-calcified lipid cyst evolved spontaneously to form a cluster of pleomorphic microcalcifications which were indistinguishable from those seen in breast cancer. The biopsy performed was consistent with fat necrosis. Ultrasonography of the specimen showed a nodule with mixed echogenicity surrounded by a hypoechoic rim. To our knowledge, this behavior is extremely rare, with only one similar case reported in the literature.
Assuntos
Calcinose/diagnóstico , Doença da Mama Fibrocística/diagnóstico , Neoplasias da Mama/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Lipídeos , Mamografia , Pessoa de Meia-IdadeRESUMO
We describe a novel technique for marking non-palpable breast lesions with the aim of selecting the best approach prior to performing a biopsy. The technique employs a new coil, specifically designed for breast localization, guided by stereotaxy. This technique is reserved for selected cases in which the lesion is seen peripherally in only one mammographic view with negative or non-conclusive ultrasonographic results, and deeply seated after a stereotactic study. Once the coil is released beside the lesion, the shortest approach from the skin may be employed to perform the biopsy. To our knowledge, this is the first report of this technique.
Assuntos
Biópsia , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/patologia , Mamografia , Próteses e Implantes , Biópsia/métodos , Feminino , Humanos , Pessoa de Meia-Idade , Técnicas EstereotáxicasRESUMO
Circumscribed to endemic areas throughout tropical countries, filariasis is a rare and unknown disease in Europe. We report four cases of calcified filariasis involving the breast, supporting the diagnosis on the typical mammographic appearance of the calcified worms and the past history of filarial infection. Few reports have been published in the radiology literature about this infrequent manifestation of the parasitation. The purpose of this article is to show the mammographic characteristics of this disease that soon will be seen frequently in developed countries due to the increasing population from the endemic areas.