RESUMEN
We report the case of a 62-year-old man hospitalized in May 2015 for symptomatic heart failure. His medical history included two liver transplantations. The first liver transplantation was performed in 1999 for a mixed alcoholic and hepatitis C-related cirrhosis and the patient received the liver of another patient with Val30Met transthyretin amyloidosis using the domino technique. In 2008, he complained of neuropathic pains and an iatrogenic-acquired transthyretin amyloidosis was diagnosed. On cardiac evaluation, amyloidosis was suspected. In March 2010, a second liver transplantation was performed with a deceased donor without complication. In May 2015, a first episode of symptomatic heart failure occurred and cardiac amyloidosis was investigated by a multimodality evaluation. Electrocardiogram, cardiac biomarkers, echocardiography, and cardiac MRI were in favor of the diagnosis of amyloidosis, whereas 99m Tc-dicarboxypropane diphosphonate scintigraphy was not. Endomyocardial biopsy finally confirmed the positive diagnosis of iatrogenic-acquired cardiac amyloidosis. This case is, to the best of our knowledge, the first to report biopsy-proven cardiac amyloidosis induced by domino liver transplantation and progressing heart failure in spite of retransplantation. The diagnostic modalities are discussed. This case should alert physicians to the cardiac risk in domino liver transplanted patients.
RESUMEN
Losses of heterozygosity on the short arm of chromosome 3p are common in cervical carcinomas in the 3p13-3p21 region, and can be observed in intra-epithelial lesions accompanying cervical cancers. As a preliminary attempt to determine whether these losses can be observed in intra-epithelial cervical lesions without concomitant invasive carcinoma, we have used two microsatellite markers located at the two most frequently deleted segments of the 3p13-3p21 region. We have studied 36 cases of grade II and grade III cervical intra-epithelial neoplasias obtained by conisation biopsies and 30 cases of cervical carcinoma including 3 micro-invasive squamous cell carcinomas. We found loss of heterozygosity or microsatellite instability in 6 of 16 (38%) and 9 of 23 (39%) informative cases of cervical carcinoma at 3p13 and 3p21, respectively. Four of 27 (15%) cases of cervical intra-epithelial neoplasia showed loss of heterozygosity at 3p13, whereas loss of heterozygosity or microsatellite instability at 3p21 was found in 5 of 19 cases (26%). No relationship was found between 3p loss of heterozygosity and human papillomavirus infection. In conclusion, losses of heterozygosity at 3p13 and 3p21 occur in premalignant lesions without concomitant invasive lesions. The prevalence and precise extent of these losses should be established by a more extensive analysis.
Asunto(s)
Cromosomas Humanos Par 3/genética , Pérdida de Heterocigocidad , Displasia del Cuello del Útero/genética , Neoplasias del Cuello Uterino/genética , Carcinoma de Células Escamosas/genética , Femenino , Humanos , Repeticiones de Microsatélite , Papillomaviridae , Infecciones por Papillomavirus/complicaciones , Infecciones por Papillomavirus/genética , Reacción en Cadena de la Polimerasa , Infecciones Tumorales por Virus/complicaciones , Infecciones Tumorales por Virus/genética , Neoplasias del Cuello Uterino/complicaciones , Displasia del Cuello del Útero/complicacionesRESUMEN
Strong Bcl-2 immunostaining was detected in 2 of 21 samples of human laryngeal keratoses, one of which contained neither p53 gene mutation nor human papillomavirus sequences nor significant levels of p53 protein. The other 19 samples including 6 cases with moderate or strong p53 staining were Bcl-2-unreactive or had minimal Bcl-2 reactivity similar to that observed in normal samples. Minimal Bcl-2 staining in 5 samples with moderate or severe dysplasia was only seen in the adjacent nondysplastic area. Our study shows that (1) some laryngeal keratoses strongly express Bcl-2 protein, (2) Bcl-2 expression does not appear to be dependent on p53, and (3) moderate or severe dysplasias may occur despite a decline in Bcl-2 expression.
Asunto(s)
Queratosis/metabolismo , Enfermedades de la Laringe/metabolismo , Proteínas Proto-Oncogénicas c-bcl-2/metabolismo , Humanos , Queratosis/patología , Queratosis/virología , Enfermedades de la Laringe/patología , Enfermedades de la Laringe/virología , Papillomaviridae/aislamiento & purificación , Infecciones por Papillomavirus/metabolismo , Infecciones por Papillomavirus/patología , Proteína p53 Supresora de Tumor/metabolismoRESUMEN
Detection of mitochondrial DNA deletions is performed in fresh or frozen material. At our institute, however, heart samples from subjects referred for autopsy are systematically processed for histologic examination (that is, paraffin-embedded). We were interested to know if mtDNA deletions can be detected in such material. Our data indicate that: 1) the most frequently observed deletion--the 4977 base pair deletion--can easily be detected in paraffin-embedded heart tissue; 2) this assay is sufficiently sensitive, since very low levels of the deletion can be found in normal heart tissue from young adults; and 3) buffered formalin appears to be the fixative of choice. Recent literature shows that repeated episodes of ischemia result in the accumulation of mtDNA deletions in myocardial cells. Because ischemic heart disease is a major cause of sudden cardiac death, a sensitive method for the detection of mtDNA damage in myocardial cells will be an important tool to facilitate understanding of unexpected cardiac arrest mechanisms.
Asunto(s)
ADN Mitocondrial/genética , Muerte Súbita Cardíaca/patología , Eliminación de Gen , Mitocondrias Cardíacas/ultraestructura , Reacción en Cadena de la Polimerasa/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Adhesión en ParafinaRESUMEN
Pulmonary Kaposi's sarcoma may contribute to respiratory dysfunction in patients with acquired immune deficiency syndrome (AIDS) and features of pneumonitis. Opportunistic infections are readily recognised in endoscopic material, but pulmonary Kaposi's sarcoma is easily missed, so that patients are deprived of specific treatment. The clinical and pathological findings from nine cases of pulmonary Kaposi's sarcoma have been reviewed; these were found among 84 patients with AIDS and pneumonitis undergoing fibreoptic bronchoscopy and bronchoalveolar lavage. Diagnosis was established before death in eight patients (in five by bronchial biopsy and in three by open lung biopsy). Examination of lavage fluid showed alveolar haemorrhage in six patients. It is concluded that: (1) fibreoptic bronchoscopy may be useful in the diagnosis of endobronchial lesions of Kaposi's sarcoma; (2) alveolar haemorrhage in patients with AIDS is suggestive of pulmonary Kaposi's sarcoma. Factors that may cause difficulties in diagnosis include the focal nature of some lesions and the pleural or parenchymatous location of others. In addition, in the lung as in the skin, the early stages of Kaposi's sarcoma resemble granulation tissue. Such lesions are far more difficult to recognise than is the late nodular stage.