Biomedical subjects
Publications and source records attributed to A Furlanetto.
An immature teratoma arising in the pineal gland in a 27-year-old male was shown to present an isochromosome 12p as evidenced by cytogenetic and fluorescence in situ hybridization analysis. As i(12p) is characteristic of gonadal germ cell tumors, this case indicates that similar genetic pathways may operate in gonadal and intracranial teratomas.
Synovial sarcoma represents a mesenchymal malignancy of unknown histogenesis that most often occurs in the lower limbs of young adults. The head and neck region is a relatively rare location, in which the hypopharynx and larynx are, respectively, the most and least often affected anatomic sites. Histologically, synovial sarcomas are classified into monophasic and biphasic variants. Immunohistochemistry plays a major part in the differential diagnosis, enabling the demonstration of epithelial differentiation. Both monophasic and biphasic synovial sarcomas are characterized cytogenetically by the reciprocal translocation t(X;18)(p11.2;q11.2) between chromosomes X and 18. Two cases of synovial sarcoma arising in the larynx and in the hypopharynx and in which cytogenetic analysis detected a diagnostic t(X;18) chromosome aberration are reported here.
A 47-year-old man experienced recurrent pulmonary embolism resistant to aggressive medical and surgical prophylaxis. Although paraneoplastic hypercoagulability was suspected, no endoscopic or radiologic signs of malignancy were detected. Death was the result of electromechanical dissociation, which was attributed to right ventricular outflow obstruction. At autopsy, anaplastic lung carcinoma was found in the left basal segment with superimposed pulmonary infarction. A huge pedunculated thrombus was attached to the left ventricular apex and extended into the ascending aorta, obstructing the left ventricular outflow. To our knowledge, this is the first case of electromechanical dissociation due to left ventricular thrombus in a patient with pulmonary embolism. Radiologic and echocardiographic evaluation of such patients should take into account possible masking of the underlying neoplasm by embolic or hemorrhagic phenomena, or both, and the presence of left-sided cardiac thombi, which may cause catastrophic events.
Leiomyoma of the urethra is a small, benign and extremely rare tumor of mesenchymal origin. To date, about thirty cases have been reported in the literature. A case of leiomyoma of the urethral meatus that had been incidentally discovered is described. The anatomopathological aspects are presented and the clinical and therapeutic problems are discussed.
Systemic mastocytosis is a rare disease of mast cell proliferation with cutaneous and multi-visceral involvement. Portal hypertension and ascites are rare manifestations of systemic mastocytosis. We report a case of systemic mastocytosis presenting with extensive nodular cutaneous lesions and hepatic dysfunction, manifested by portal hypertension (ascites, splenomegaly) and derangement of metabolic function (hyperammonemia, hypoalbuminemia, hypocholesterolemia), a picture resembling that of a common cirrhotic form. The correct diagnosis was established only after tissue sections were appropriately stained for mast cells. On the basis of our and other observations we suggest that systemic mastocytosis be added to the list of infiltrative diseases of the liver with potential evolution to portal hypertension and compromise of biochemical functions.
Fifty-one patients were examined by sonography for suspicious cervical adenopathies. In 11 the adenopathies, histologically benign, showed typical "umbilicate" aspect. We present this aspect as a possible benign sign and we advance a pathological interpretation.
Synovial sarcoma is a clinically and morphologically well defined entity that has been described extensively in Literature. It occurs primarily in the para-articular regions, usually in close association with tendon sheaths, bursae and joint capsules. On rare occasions it is also encountered in areas without any apparent relationship to synovial structures, as in the parapharyngeal region or the abdominal wall. It is considered the fourth most common type of sarcoma (7-10%) after malignant fibrous histiocytoma, liposarcoma and rhabdomyosarcoma. There are three histological variants: the classical biphasic, the monophasic fibrous type and the monophasic epithelial type (the biphasic and monophasic fibrous type are equally common). Clinical sign complaints are subtle and at times noted 20 years before diagnosis. The course of the disease is slow and insidious. The most typical presentation is that of a palpable deep-seated swelling or mass associated with pain or tenderness. Patients with synovial sarcoma in the head and neck (10%) tend to have difficulties in swallowing and breathing and not infrequently have alteration or loss of voice. Head and neck synovial sarcoma seem to originate from the paravertebral connective tissue spaces and manifest themselves as solitary retropharyngeal or parapharyngeal masses near the forking of the carotid. Additional cases in this general area have been reported in the soft palate, tongue, maxillofacial region, mandible corner, sternoclavicular region, scapular region and the cervical oesophagus. As in other types of sarcoma, the principal sites of metastases are the lung, but many make their appearance many years after the initial diagnosis.(ABSTRACT TRUNCATED AT 250 WORDS)
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Analysis of bacterial plasmid profiles has been shown to be very important in epidemiological studies, especially those involving outbreaks of nosocomial infections. The molecular weight size of unknown plasmids is determined by comparing their band pattern obtained in agarose gel electrophoresis with those obtained with plasmids that have been used as molecular weight or size standards. In this study, we determined the size of plasmids present in clinical samples of Enterobacter cloacae comparing their electrophoresis mobility with seven plasmids of known size, using three different mathematical methods. For plasmids with molecular weight ranging from 2 kb to 100 kb. The most accurate determinations were obtained by power-function. Analyses using the exponential variables obtained with these plasmids were accurate for two types of plasmids, those with size ranging from 50 kb to 100 kb and those with size ranging from 2 kb to 30 kb. We also observed discrepancies among the methodologies described, including one used by a computer software designed for calculating the size of plasmids DNA.