Primary cardiac angiosarcoma detected by magnetic resonance imaging but not by computed tomography.

A 51-year-old man with a primary angiosarcoma of the right atrium is reported. The angiosarcoma was not detected by transthoracic echocardiography or computed tomography, but magnetic resonance imaging and transesophageal echocardiography did show the tumor of the right atrial free wall. We performed a transvenous endomyocardial biopsy of the tumor under the guidance of transesophageal echocardiography and made the pathological diagnosis. This case demonstrates the advantage of magnetic resonance imaging and transesophageal echocardiography for tumor detection over transthoracic echocardiography and computed tomography and the usefulness of transesophageal echocardiography for guiding the right atrial endomyocardial biopsy procedure.

Associations of distinct variants of the intestinal mucin gene MUC3A with ulcerative colitis and Crohn's disease.

Ulcerative colitis (UC) and Crohn's disease (CD), the major forms of inflammatory bowel diseases (IBDs). are multifactorial disorders of unknown etiology. We reported a possible association of rare variable number of tandem repeat (VNTR) alleles of the "MUC3" gene with a susceptibility to UC. However, an entire structure of "MUC3" is still unknown because the long stretches of tandem repeats in this "gene" make its cloning extraordinarily difficult. In this study, we report evidence that "MUC3" consists of two genes, MUC3A and MUC3B, both of which encode membrane-bound mucins with two epidermal growth factor-like motifs, and we describe the complete 3'-terminal structures of these two genes. We have also analyzed the single nucleotide polymorphisms (SNPs) in the exonic sequences of the 3' portions of these two genes to investigate whether sequence variations in these regions can cause person-to-person differences in the susceptibility to IBDs, and report here that non-synonymous SNPs of MUC3A, involving a tyrosine residue with a proposed role in cell signaling, may confer genetic predisposition to CD (P = 0.0132). Our findings suggest that variants of MUC3A may be involved in the occurrence of UC and CD in distinct manners.

Comparison between pre- and posttreatment clinical and renal biopsies in children receiving low dose ciclosporine-A for 2 years for steroid-dependent nephrotic syndrome.

BACKGROUND: The dose of ciclosporine-A (CSA) for long-term treatment of nephrotic syndrome remains unclear due to the chronic nephrotoxicity of CSA. PATIENTS AND METHODS: We examined 14 children with steroid-dependent nephrotic syndrome (SDNS) who showed signs of steroid toxicity and did not respond to cyclophosphamide. CSA was started at a dose between 2.0 and 3.3 mg/kg/day and the CSA dosage was decreased to between 1.6 and 3.1 mg/kg/day 4 months after the initiation of CSA therapy to maintain 40 to 70 ng/ml in the whole blood trough level. RESULTS: Renal histology before CSA therapy showed minimal changes in all patients. It was possible to discontinue corticosteroid therapy within 3 to 4 months in all patients. The SD score for height significantly improved during CSA therapy. The incidence of CSA side-effects in our patients was lower than previously reported. Post-therapy biopsies after 24 months of CSA treatment showed mild tubular atrophy accompanying stripped interstitial fibrosis in only 1 patient (7%), and positive findings of global sclerosed glomeruli in 2 patients. CONCLUSION: Long-term CSA therapy in low doses was effective for patients with SDNS and demonstrated a low incidence of CSA side-effects including nephrotoxicity.

Association of ulcerative colitis with rare VNTR alleles of the human intestinal mucin gene, MUC3.

Ulcerative colitis (UC), a common form of inflammatory bowel disease, is a multifactorial disorder with significant genetic influence. Recently, evidence of linkage on chromosome 7q near the intestinal mucin gene MUC3 was reported by an affected sib-pair analysis. Previous reports indicate a possible mucin abnormality in UC patients, but whether genetic differences in a specific mucin gene are associated with UC is unknown. Here we analysed polymorphisms of variable number of tandem repeats (VNTRs) within this gene using DNAs obtained from 243 Japanese (75 patients with UC and 168 controls), and to confirm the result we undertook a two-stage examination using 328 Caucasian samples (72 and 85 with UC in the first and second stages, respectively, and 171 controls). When the frequency of patients carrying one or two rare VNTR alleles was compared with that of controls, a significant increase was found first in Japanese patients (odds ratio 2.72, 95% CI 1.17-6.32, P = 0. 0308). In Caucasians, the odds ratio was 2.80 (95% CI 1.36-5.75, P = 0.0079) in the first stage, 2.43 (95% CI 1.20-4.92, P = 0.0196) in the second stage and 2.60 (95% CI 1.41-4.80, P = 0.0024) in total. The overall odds ratio was 2.64 (95% CI 1.60-4.33, P = 0.0001). This result suggests that rare alleles of the MUC3 gene may confer genetic predisposition to UC.

[Successful treatment of metastatic and refractory osteosarcoma by ifosfamide, carboplatin and vindesine: case report].

A 13-year-old boy with unresectable pulmonary metastatic osteosarcoma, which was refractory to high dose methotrexate, adriamycin, cisplatin and combination of bleomycin, cyclophosphamide and actinomycin D, was treated by aggressive chemotherapy including the combination of ifosfamide (1 g/m2 x day 1-4), Carboplatin (100 mg/m2 x day 1-4) and Vindesine (4 mg/m2 x day 1). After 5 courses of the treatment, pulmonary metastasis regressed, respiratory symptoms resolved completely, and in this regimen no severe toxicity was observed. Thoracotomy for pulmonary metastatic osteosarcoma is an accepted treatment, but treatment for patients with unresectable disease has not been established. It is suggested that this regimen is relatively safe and very effective for refractory and unresectable osteosarcoma.

The effects of clonazepam on rolandic discharge of benign epilepsy of children with centro-temporal EEG foci.

1) CZP had marked effects on RD. RD disappeared in 8 (73%) of 11 patients treated with CZP alone and 6 (43%) of 14 treated with CZP in combination with other drugs. Even when RD persisted, its amplitude and frequency decreased in some patients. 2) In the group treated with CZP in combination with other drugs, RD disappeared in all 5 patients with the persistent RD, of whom 2 had arachnoid cyst. Of the 6 patients with frequent seizures, 2 were subsequently diagnosed as having CPS and SPS, respectively. Patients who did not respond to CPZ included those in whom the diagnosis of BECCT should be reconfirmed, and electro-clinical response may be also useful for diagnosing RD. 3) In patients treated with CZP alone for a short-term treatment of BECCT, the drug administration could be discontinued only in one. A longer follow-up study is necessary to reach a conclusion in future.