Association of Eosinophilic fasciitis and epileptic seizure.

Visceral involvement in eosinophilic fasciitis (EF) is a well known but rare event. With regard to neurological manifestations, both carpal tunnel syndrome and peripheral neuropathy have been described. We report the case of a 40-year-old woman with EF who had a major motor seizure. This association might not be fortuitous and be related to the known neurotoxin of eosinophils.

A percutaneous large-needle aspiration biopsy technique for histologic examination of the testis in infertile patients.

OBJECTIVE: To describe a relatively new percutaneous large-needle aspiration biopsy technique for histologic examination of the testis in infertile patients. DESIGN: Retrospective analysis of clinical and pathologic data. SETTING: Clinical and academic research environment. PATIENT(S): Sixty-six infertile patients who underwent testicular biopsy. INTERVENTION(S): Local anesthesia was induced through spermatic cord block with lidocaine, and a relatively large needle (usually 18- or 20-gauge) was introduced percutaneously into the testicle without a scrotal incision. MAIN OUTCOME MEASURE(S): The number of seminiferous tubules per histologic section of each testicular biopsy sample. RESULT(S): A mean of 74 seminiferous tubules were obtained in the histologic sections of each biopsy sample. This number varied according to the size of the needle used; it was 24.7 when a 21-gauge needle was used, 56.2 when a 20-gauge needle was used, and 103 when an 18-gauge needle was used. The biopsies were performed in the office. No significant hematomas occurred, no antibiotic prophylaxis was prescribed, and no postbiopsy medical or pharmacologic interventions were required. CONCLUSION(S): Tissue specimens as large as those obtained with open surgical biopsy can be obtained from the testicles of infertile patients with the use of a percutaneous technique that is easier, less costly, and safer than any previously reported.

Neuro-laryngeal involvement in Churg-Strauss syndrome.

We report our clinical experience in managing a 59-year-old Italian male with Churg-Strauss syndrome (CSS) whose first clinical manifestation was a persistent dysphonia; the patient worked as a mechanic. Video-laryngostroboscopic examination revealed paresis of the right vocal fold with a reduction in adduction together with incomplete glottal closure. Spectrographic and spirometric tests both showed abnormal changes. Laryngeal electromyography revealed neurogenic damage of the right thyroarytenoid and crycoarytenoid muscles. Due to the appearance of typical signs of systemic involvement of CSS as a necrotizing vasculitis, the patient was admitted to the Rheumatology Unit of the University of Pisa. Histologic analysis of a skin lesion on the patient's foot confirmed the diagnosis. Treatment with 6-methylprednisolone quickly brought remission from systemic and laryngeal symptoms, as well as improvement in the results of video-laryngostroboscopic, spectrographic and laryngeal myographic tests.

Genetic analysis of lung tumours of non-smoking subjects: p53 gene mutations are constantly associated with loss of heterozygosity at the FHIT locus.

Lung cancer is strictly associated with tobacco smoking. Tumours developed in non-smoking subjects account for less than 10% of all lung cancers and show peculiar histopathological features, being prevalently adenocarcinomas. A number of genetic data suggest that their biological behaviour may be different from that of lung tumours caused by smoking, however the number of cases investigated to date is too low to draw definitive conclusions. We have examined the status of p53 and K-ras genes and the presence of loss of heterozygosity (LOH) at the FHIT locus in a series of 35 lung adenocarcinomas that developed in subjects who had never smoked. Results were compared with those obtained in a series of 35 lung adenocarcinomas from heavy-smoking subjects. In the group of non-smoking subjects p53 mutations and LOH at the FHIT locus were present in seven (20%) cases, and the two alterations were constantly associated (P < 0.0001), whereas they were not related in the series of carcinomas caused by smoking. In tumours developed in heavy-smoking subjects, the frequency of LOH at the FHIT locus was significantly higher (P = 0.006) than in tumours from non-smoking subjects. The frequency of p53 mutations in adenocarcinomas caused by smoking was not different from that seen in non-smoking subjects. However, in the group of smoking subjects we observed mostly G:C --> T:A transversions, whereas frameshift mutations and G:C --> A:T transitions were more frequently found in tumours from non-smoking subjects. No point mutations of the K-ras gene at codon 12 were seen in subjects who had never smoked, whereas they were present (mostly G:C --> T:A transversions) in 34% of tumours caused by smoking (P = 0.002). Our data suggest that lung adenocarcinomas developed in subjects who had never smoked represent a distinct biological entity involving a co-alteration of the p53 gene and the FHIT locus in 20% of cases.

FHIT and p53 gene abnormalities in bronchioloalveolar carcinomas. Correlations with clinicopathological data and K-ras mutations.

Bronchioloalveolar carcinoma (BAC) is a particular type of adenocarcinoma of the lung which accounts for up to 9 per cent of pulmonary malignancies. The aetiology and pathogenesis of this unique neoplastic disease are still unclear. Three histological subtypes of BAC have been recognized: mucinous, non-mucinous, and sclerosing. Of these, mucinous and sclerosing BAC have a worse prognosis than non-mucinous tumours. The different morphological patterns and clinical outcomes of the subtypes of BAC suggest differences in their biological behaviour. Previous reports have shown that the mucinous form of BAC is characterized by constant mutations at codon 12 of the K-ras gene, whereas the other two histotypes show a frequency of K-ras mutations which is not different from that observed in conventional lung adenocarcinomas. The present study of a series of 51 BACs, previously investigated for K-ras gene mutations, has evaluated the status of two other genes, p53 and FHIT, known to be frequently altered in non-small cell lung cancer. Loss of heterozygosity at microsatellite-containing loci located within the FHIT gene was observed in 22 (43 per cent) BACs. The distribution of FHIT gene abnormalities was not statistically different in the three histological subtypes. p53 mutations were present in 13 (32 per cent) non-mucinous/sclerosing BACs, while no mutations were seen in mucinous tumours (P = 0.039). Correlations with clinicopathological parameters showed that p53 mutations in BACs are associated with more aggressive tumours. No correlations were observed between FHIT or K-ras gene abnormalities and clinicopathological data. In conclusion, these results indicate that FHIT alterations are frequently involved in BAC tumourigenesis and that genetic changes in the p53 and K-ras genes can distinguish between different histotypes of BAC.

Cyclin D1 and retinoblastoma susceptibility gene alterations in non-small cell lung cancer.

Among the major regulators of the G1 restriction point are cyclin D1 and the retinoblastoma gene product (RB). In non-small cell lung cancer (NSCLC), the cyclin D1 gene is amplified/over-expressed in almost 50% of cases, and RB is inactivated in 6-32% of cases. It is of interest to evaluate concurrently the alterations of both genes on the same series of NSCLCs, to investigate whether cyclin D1 and RB alterations are alternative pathways leading to inactivation of the G1 restriction point or if they can occur in the same tumor, possibly exerting an additive effect on cancer progression. We investigated a series of 57 NSCLCs, analyzing cyclin D1 and RB at the gene and protein levels by Southern blot, Northern blot and immunohistochemistry. The cyclin D1 gene was amplified in 18 cases, cyclin D1 immunoreactivity was seen in 25 tumors. Amplification and expression were significantly associated. RB immunohistochemical expression was absent in 9 of 42 informative cases. RB mRNA expression was low to absent in 9 of 45 informative cases, cyclin D1 amplification was associated with normal RB mRNA, and cyclin D1 over-expression was associated with normal RB immunoreactivity, supporting the hypothesis that alterations of cyclin D1 and RB are alternative mechanisms by which tumor cells may escape the G1 restriction point. A concurrent alteration of RB and cyclin D1 was seen in a small subset of NSCLCs. Abnormalities of cyclin D1 and/or RB at the gene and/or expression level were present in more than 90% of cases, stressing that cyclin D1 and/or RB alterations represent an important step in lung tumorigenesis.

Bilateral synchronous testicular involvement in multiple myeloma. Case report and review of the literature.

The authors describe a case of synchronous bilateral involvement of the testes in a 70-year-old patient seven years after the onset of an IgG k IIIA multiple myeloma. Ultrasonographic and postoperative immunohistochemical studies were performed. A complete review of the literature shows the rarity of testicular plasmacytoma. The present one is the second reported case of syncronous involvement of the testes.

Intrahepatic metastatic nodules of hepatocellular carcinoma detected at lipiodol-CT: imaging-pathologic correlation.

BACKGROUND: The purpose of this study was to determine whether tiny (< 2 cm) areas of iodized-oil retention diagnosed as intrahepatic metastatic nodules of hepatocellular carcinoma (HCC) at computed tomography (CT) following intraarterial injection of Lipiodol (Lipiodol-CT) correlate with truly cancerous foci on the corresponding sectioned pathologic specimens. METHODS: Thirty-two consecutive patients with biopsy-proven HCC (26 men and six women, aged 41-72 years) underwent prospective evaluation with Lipiodol-CT before undergoing surgery (hepatic resection, 30 patients; liver transplantation, two patients). Imaging findings were correlated with intraoperative and pathologic findings. RESULTS: Twenty-one areas of retained Lipiodol (0.5-1.6 cm in diameter, mean +/- SD: 0.9 +/- 0.3 cm) had features consistent with intrahepatic metastatic nodules of HCC on Lipiodol-CT scans. Nineteen of the 21 areas correlated with tumor deposits at pathologic examination of the surgical specimens, whereas two of 21 were due to abnormal retention of iodized oil within noncancerous liver parenchyma. The positive predictive value of findings at Lipiodol-CT for the diagnosis of intrahepatic metastatic nodule of HCC was 90.5%. CONCLUSIONS: Findings at Lipiodol-CT enable a reliable diagnosis of intrahepatic metastatic nodules of HCC.