Biomedical subjects
Publications and source records attributed to P Perri.
In this paper the authors examine the echographic findings in 20 patients with metastatic and secondary tumors of the orbit observed at the University Eye Clinic of Ferrara (Italy) between January 1985 and August 1995. The aim of this study is to identify some typical echographic characteristics in these forms and to underline the diagnostic role of orbital echography.
Two cases of posterior inflammatory scleritis are described. The authors show the echographic findings, pointing out the helpfulness of diagnostic ultrasound and the crucial role in monitoring these diseases with A scan examinations to obtain clear results of therapy, even if subjective symptoms disappear.
Ultrabiomicroscopy, using equipment with high-frequency transducers, is a very simple method for the study of superficial ocular structures. Nevertheless, these equipment are very expensive and not commonly used. The most widespread and used instrumentations are still provided with lower-frequency probes. These are sufficient to show the anterior segment of the eye. In this work we underline the diagnostic importance of this method and, in some cases, the therapeutic role.
In neuroblastoma, N-myc amplification has been found to be strikingly associated with rapid tumour progression and poor prognosis. Recent studies have demonstrated that cell proliferative activity also significantly predicts the clinical outcome in patients with neuroblastoma. In order to define the correlation between N-myc amplification and cell proliferation rate, in the present investigation the two parameters were first assessed in 48 neuroblastoma tumours. N-myc amplification was evaluated in frozen specimens by Southern-blot analysis using the NB 19-21 probe and it was detected in nine patients. Cell proliferative activity was determined by measuring the AgNOR protein area in histological sections selectively stained by silver. The mean AgNOR protein area value of neuroblastomas with N-myc amplification (3.63 +/- 1.62 microns2) was not significantly different from that of neuroblastomas without N-myc amplification (2.46 +/- 1.57 microns2; P = 0.30). On the other hand, both N-myc amplification and AgNOR protein expression were found to be significantly related to the clinical outcome of the disease (P < 0.001 and P = 0.0143, respectively; median follow-up time = 47 months; range 18-106 months). In a second set of experiments, the relationship between N-myc amplification and cell proliferation rate was assessed in seven established human neuroblastoma cell lines. N-myc amplification was found to be completely independent of the population doubling time (DT), which, on the contrary, was strictly related to the quantitative expression of AgNOR protein (r = -0.947; P < 0.001). Altogether, the present results indicate that N-myc amplification and cell proliferation rate are not interrelated in neuroblastoma, each representing an independent biological parameter of cancer cells associated with the clinical behaviour of the disease.
Deletion of chromosome 1p and MYCN amplification have been reported as frequent abnormalities in human neuroblastoma. We studied loss of heterozygosity (LOH) in 50 (48 informative) Italian neuroblastoma patients by restriction fragment length polymorphisms (RFLPs) analysis using anonymous and hypervariable region (HVR) sequences. Twelve cases (25%) showed LOH at one or more loci. Locus D1S94 was the most frequently involved in LOH events (8/12) of deleted cases (66.6%). MYCN amplification was observed in 20% of patients which showed a significantly lower event-free survival probability (EFSp) (P = 0.004). We also studied the allelic distribution in the constitutional DNA of neuroblastoma patients (n = 44) and a matched group of healthy Italian subjects (n = 79) for loci D1S112 and D1S94. A significantly (P = 0.01) different allele frequency was detected for the two groups at locus D1S94, but not at D1S112. Moreover, the neuroblastoma population did not confirm the Hardy-Weinberg expectations at the former locus. This observation suggests the existence of an allelotype associated with neuroblastoma susceptibility.
PURPOSE: To evaluate the prognostic role of MYCN oncogene amplification in children with neuroblastoma. PATIENTS AND METHODS: Of 694 children (age, 0 to 15 years) with previously untreated neuroblastoma, 295 (42%) were evaluated at diagnosis for MYCN gene amplification. RESULTS: Clinical characteristics and survival results of 295 patients studied and 399 not studied for MYCN were comparable. In 48 of 295 patients studied for MYCN (16%), the gene was amplified (> or = three gene copies). Amplification was more frequent in children older than 1 year, with abdominal tumor (18% v 7%), advanced disease, normal vanillylmandelic (VMA) urinary excretion, and high lactate dehydrogenase (LDH), ferritin, and neuron-specific enolase (NSE) serum levels. In patients studied for MYCN, the 5-year overall survival (OS) rate was higher for children aged less than 1 year (90% v 44%), with extraabdominal tumor, stage 1 or 2 versus 3 versus 4, and normal NSE, LDH, and ferritin serum levels. Patients with amplified MYCN had a worse OS (odds ratio [OR], 3.38; confidence interval [CI], 2.22 to 5.16). This association held after adjustment for other characteristics. The impact of MYCN amplification was greater in patients with favorable characteristics, in particular age (OR, 10.28 for infants; 2.08 for older children) and stage (OR, 35.3 for stage 1 to 2; 8.41 for stage 3; 1.76 for stage 4). However, of 29 children with stage 4s, all three with amplified MYCN survive. In a multivariate analysis, the prognostic role of MYCN amplification, age, and stage was confirmed, but the size of the effect of MYCN was dependent on age and stage. CONCLUSION: MYCN amplification is associated with a worse prognosis in children with neuroblastoma at all ages and stages except 4s. This association is most pronounced in children with otherwise favorable prognostic indicators, and in these children should be considered as an indication for more intensive intervention.
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Human neuroblastoma (NB) is characterized genetically by deletions of the short arm of chromosome I and by MYCN amplification. Loss of heterozygosity (LOH) has been found frequently for region 1p36. We have studied restriction fragment length polymorphisms (RFLPs) by using anonymous and hypervariable region (HVR) sequences to demonstrate LOH for 1p loci in 50 Italian neuroblastoma patients. Twelve cases (25%) showed LOH at one or more loci. Locus D1S94 was the most frequently involved (8/12 cases with deletion; 67%). MYCN amplification was observed in 20% of the patients. We also studied the allelic distribution in the constitutional DNA of neuroblastoma patients and of healthy Italian subjects for loci D1S112 and D1S94. A significantly (P = 0.01) different allele frequency was detected in the two groups at locus D1S94, but not at D1S112. Furthermore, the NB population was not in Hardy-Weinberg equilibrium at the former locus. This new observation suggests the existence of an allelotype associated with the susceptibility to neuroblastoma.
We report on a male infant with oral, facial, digital, and skeletal anomalies in association with severe psychomotor delay. This may represent a new oral-facial-digital syndrome.
The presence of three distinct serum markers of carcinoma, tumor-associated glycoprotein 72 (TAG-72; as measured by the CA 72-4 assay), CA 19-9, and carcinoembryonic antigen (CEA), was evaluated in 194 patients diagnosed with either malignant (n = 94) or benign (n = 100) gastric disease. Of the 94 patients diagnosed with gastric carcinoma, the percentage of patients whose serum samples were positive for TAG-72, CA 19-9, or CEA was 42.6, 31.9, and 20.2%, respectively. Furthermore, fewer false positive samples were observed for TAG-72 than either CA 19-9 or CEA. The analysis of serum TAG-72, CA 19-9, and CEA levels in patients diagnosed with early (stage I and II) versus advanced (stage III and IV) disease revealed a significantly higher level of TAG-72 and CA 19-9 in the serum of patients with advanced stage gastric carcinoma. The serum samples were also analyzed to determine whether any advantage might be gained by simultaneously measuring two or more of the tumor markers. The data clearly indicate that the measurement of TAG-72 with CA 19-9 significantly increased the percentage of gastric carcinoma patients with positive serum levels of either antigen. This advantage was achieved with no significant increase in the number of false positives. Twenty-one patients were followed postsurgically for up to 3 years to determine whether the appearance or reappearance of TAG-72, CA 19-9, or CEA accurately predicted disease recurrence. Positive serum TAG-72 levels correlated with disease recurrence in 7 of 10 patients, compared with 5 and 2 patients for CA 19-9 and CEA, respectively. The findings suggest that serum TAG-72 as measured by the CA 72-4 assay may be a useful marker for late stage gastric carcinoma and its measurement alone or in combination with CA 19-9 may have utility in the clinical management of gastric carcinoma.
Over an 18 year period 42 patients with ocular metastases, age 30-75 years, 27 female and 15 male, were evaluated echographically. The right eye was affected in 18, the left in 17, and both eyes in 7. The most frequent primary tumours were carcinomas from breast (n = 25), lung (n = 6), and urinary bladder (n = 2). The choroidal metastases appeared mainly flat-infiltrating or dome-shaped, on B-scan. A-scan generally revealed high or medium reflectivity, however with important exceptions. Atypical cases are discussed. Usually eyes with metastases should not be enucleated. Accordingly, ultrasonic evaluation and follow-up is of obvious importance.
Eighty-two patients diagnosed with gastrointestinal (GI) adenocarcinoma were evaluated before and for 26 months after primary tumor resection for the presence of two serum tumor markers: tumor-associated glycoprotein-72 (TAG-72) and carcinoembryonic antigen (CEA). Elevated TAG-72 and CEA serum levels were found preoperatively in 32 (39%) and 34 (41.5%) of the 82 patients, respectively. The percentage of patients with elevated serum levels of either TAG-72 or CEA was 56.1% (46 of 82). Twelve (15%) patients who had normal CEA serum levels had elevated TAG-72 serum levels, and conversely, serum from 14 (17%) patients who were TAG-72 negative were CEA positive. Forty-five of the 82 patients were diagnosed with advanced disease (i.e., Stages C and D for colorectal, Stages III and IV for stomach), and 29 (64.4%) and 26 (57.8%) of those patients had elevated serum levels of TAG-72 or CEA, respectively. Elevated levels of either TAG-72 or CEA, however, were found in sera of 82.2% of patients with advanced GI cancer, which is an increase of 24.4% over the use of CEA antigen alone as a marker of disease. The measurement of both TAG-72 and CEA may improve the diagnosis of patients with GI malignant disease due to the apparent complementary association which exists between these tumor markers. Serum TAG-72 and CEA levels were monitored in 31 patients for varying lengths of time after resection of the carcinoma; 11 patients developed recurrent disease. Sera from nine of 11 (81.8%) of these patients had elevated TAG-72 levels and six of 11 (54.5%) had elevated CEA levels. Tumor marker elevations were observed either before (35 to 166 days) or at the time of diagnosis of recurrence. The elevation of one or both markers correlated with the clinical status in ten of 11 (90.9%) patients with recurrence. In addition, 20 patients who were clinically free of disease after more than 700 days' follow-up had normal serum levels of both TAG-72 and CEA. These findings suggest that the combined use of serum TAG-72 and CEA measurements may improve detection of recurrence in patients with GI cancer and may be useful in the postsurgical management of GI adenocarcinoma patients.
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The authors, before starting the discussion about ultrasound findings in infants with ROP, present a review of the history of ultrasound in this disease. Early A-scan reports are mentioned while the B-scan literature from 1984 to 1988, consisting of seven papers, is reviewed extensively. The most important echo patterns in the various stages of the disease are described along with the most intriguing ones. There is disagreement as to whether it is always possible to show by echography if the retina is in place or not. This is due to the fact that the acoustic properties of the retina seem sometimes to change as time goes by and is quite independent of any technical difficulties which are still very great and the know-how of the examiner.
We report a case of a 5-month-old female with sporadic monolateral retinoblastoma (RB) with a constitutional de novo complex autosomal translocation involving chromosomes 8, 13 and 15 resulting in a deletion of chromosome 13q14 confirmed by esterase D assay. The translocation of the terminal portion of chromosome 8 has been observed by in situ hybridization with c-myc and thyroglobulin probes.
The files of four cases of spontaneous choroidal detachment were reviewed in order to demonstrate a low pressure arteriovenous (A-V) fistula as the cause. The clinical course and symptoms were compared with those described in the 'red-eyed shunt syndrome'. In one patient an A-V fistula was demonstrated by carotidography, while in another patient CT findings supported a similar aetiology. In two out of four cases the initial clinical diagnosis was a solid subretinal mass. In all cases echography demonstrated a choroidal detachment which spontaneously disappeared. A prolonged course, bilateral involvement with changing side recurrences are the characteristics of this disease.
A case of supraclavicular metastatic follicular carcinoma which occurred 7 years after the patient had undergone total thyroidectomy is presented. By means of whole body 210-thallium scan, a precise diagnosis was made, while the whole body 131-I scan was negative. The thyroglobulin serum levels were high before surgery but significantly decreased after lymphadenectomy. The clinical use of this tracer to detect functioning and non-functioning metastases of thyroid carcinomas is discussed.
On the basis of personal experience and a review of the literature, the authors have evaluated the results obtained with hyperthermic antiblastic perfusion (HAP) for the treatment of stage II, III and IIIAB limb melanoma. The evaluation showed that today HAP may be considered a safe and effective treatment, with a major complication rate ranging between 1% and 4%. In terms of tumor response, locoregional control and survival, this treatment has provided better results than other regional chemotherapeutic modalities and undoubtedly better results than those obtained with conventional, even radical, surgery. The multiparametric analysis showed that, of the treatment-related prognostic factors, the minimum tumor temperature influenced the percentage of complete response (CR) to the greatest extent (P < 0.03), with a positive trend also with regard to the dosage of the antiblastic drug employed (P < 0.08). In turn, the complete response rate was a determinant as far as locoregional control (75.3%; P < 0.0009) and disease-free (51.4%; P < 0.009) and overall survival (63.2%; P < 0.009) rates were concerned. Of the tumor-related prognostic factors, the number of lesions (P < 0.0014), sex (P < 0.04), and the number of disease recurrences (P < 0.01) appear to influence overall survival.