Three novel germline mutations in the adenomatous polyposis coli gene.
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Biomedical subjects
Publications and source records attributed to L Bucci.
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The aim of the study was to compare functional and refractive outcome after temporal approach phacoemulsification combined with superior trabeculectomy against that of standard superior phacotrabeculectomy in patients affected by cataract and uncontrolled glaucoma. Fifty patients undergoing combined surgery were randomly allocated to receive either a standard superior phacotrabeculectomy (group A) or a temporal via clear cornea phacoemulsification combined with a separate superior trabeculectomy (group B). Short-term and long-term mean IOP reductions were similar in the two groups though, at 2 years, more patients in the standard phacotrabeculectomy group had need of medical therapy to control their ocular pressure (p = 0.04). Group B had less surgically induced astigmatism than group A (p = 0.05). There was no significant difference in ocular inflammation and complication rates between the 2 groups.
We report the thirteenth case of a rectourethral fistula in Crohn's disease. The patient, a 37 year-old-white male, had a 20 year history of intestinal Crohn's disease and had undergone numerous bowel resections. His symptoms were fecaluria, urorrhea and passing of urine from an orifice just outside the base of the scrotum. He had urinary infection and severe ileocolitis. He underwent a diagnostic evaluation that revealed a fistula comprising the membranous urethra, the rectum, the perineum and the scrotum. We performed medical therapy with metronidazole (20 mg/kg/day/12 months). We present in this article a review of the literature on the management of rectourethral fistulas in Crohn's disease. Surgeons have successfully used several approaches in the repair of this disorder, but no single procedure had proved to be best or even universally applicable. We emphasize, as the literature suggests, that management must be individualized. Medical therapy with metronidazole has an important role in a patient with rectourethral fistula and concomitant proctitis, ileocolitis, urinary sepsis and multiple previous surgeries.
We report the thirteenth case of a recto-urethral fistula in Crohn's disease. The patient, a 37-year-old white male, had a 20-year history of intestinal Crohn's disease and had undergone numerous bowel resections. His symptoms were fecaluria, urorrhea and passing of urine from an orifice just outside the base of the scrotum. He had urinary infection and severe ileocolitis. He underwent a diagnostic evaluation (cystourethroscopy, proctoscopy, retrograde pyelography, intravenous urography, voiding cystourethrography) that revealed a fistula comprising the membranous urethra, the rectum, the perineum and the scrotum. He was treated with Metronidazole (20 mg/kg/day/12 mo). At 1 year no signs of intestinal disease and urinary sepsis were noted. The external orifice and the perineal fistulous network were closed, and the drainage from the rectum and the urethra had improved. No side effects limited use of the drug. No relapse was observed in the 3 months, after the therapy was discontinued. We present a review of the literature on the management of rectourethral fistulas in Crohn's disease. Surgeons have used successfully several approaches in the repair of this lesion, but no single procedure has proved optimal or even universally applicable. We emphasize, as the literature suggests, that the management must be individualized. Medical therapy with metronidazole has an important role in a patient with rectourethral fistula and concomitant proctitis, ileocolitis, urinary sepsis and multiple previous surgical procedures.
44 patients with advanced breast cancer were treated with high-dose epirubicin (130 mg/sqm), because of its steep dose-response curve. Lonidamine and alpha interferon were administered as well with the aim of increasing epirubicin uptake and overcoming drug resistance. Granulocyte-colony stimulating factor support was provided. 14 complete responses and 22 partial responses were observed in 40 evaluable patients for a 90% overall response rate. Median duration of response was 12 months for complete responders, 7 months for partial responders. In two cases the complete response has lasted for more than two years. Myelosuppression, infection, and cardiac toxicity were the main treatment-related toxic effects. These results are encouraging enough to justify a randomized comparison of our chemotherapy program with standard regimens used in advanced breast cancer.
Forty-one patients with advanced breast cancer were given carboplatin and vinorelbine as second-line therapy. Overall objective response rate was 46% (95% confidence interval 26-56%). Myelotoxicity was the most frequently observed toxic effect; grade III-IV leucopenia occurred in 46% of the patients. Our regimen is active as second-line chemotherapy for advanced breast cancer and warrants further evaluation.
PURPOSE: Follow-up should identify metachronous colonic neoplasms and precancers, suture line recurrences, and isolated liver or pulmonary metastases. For some sites of failure the surgical re-resection and multimodal approaches increase disease-free survival and quality of life. The aim of our study was to evaluate the role of the different follow-up plans and the carcinoembryonic antigen directed second-look surgery. METHODS: One hundred-sixty patients radically resected for Dukes B or C colorectal cancer were evaluated by a follow-up plan (plasma carcinoembryonic antigen every 2 months; echography every 6 months; chest x-ray every 12 months; and colonoscopy at 1 year and then every 3-5 years). RESULTS: Eighty-nine recurrences were detected (55.6 percent). In 72 recurrences plasma carcinoembryonic antigen elevation was present. Eight carcinoembryonic antigen directed second-look surgeries were performed: in four patients surgical evidence of recurrence was found (two isolated liver metastases were radically resected); two patients with no surgical evidence of recurrence developed a surrenalic isolated metastases and pelvic and hepatic recurrences; two patients had a five-year disease-free survival. In the 17 symptomatic patients with no carcinoembryonic antigen elevation diffuse disease was present, not resectable for cure. Four solitary liver metastases, one metachronous colonic neoplasm, and one suture line recurrence presented a five-year survival. CONCLUSIONS: The authors emphasize that carcinoembryonic antigen-directed second-look surgery is not acceptable for elevated costs. Intensive follow-up plans are superflous, while the monitoring of the carcinoembryonic antigen and instrumental restaging as an indicator of solitary liver metastases and mucosal lesions are very useful.
Fifty-eight patients, 30 males and 28 females, aged between 42 and 60 years (mean age 57 years) suffering from cirrhosis of the liver with signs and symptoms of portosystemic encephalopathy were studied. The double-blind study was performed according to a double-dummy experimental design, comparing the antibiotic rifaximin, administered at a dose of 1200 mg/day, with lactulose, administered at a dose of 30 g/day, both for 15 days. At the end of the treatment with the two drugs, there was a significant improvement in the main symptoms of portosystemic encephalopathy (mental state, asterixis, 'A' cancellation test, Reitan test). The improvement, which was also confirmed by a reduction in the overall score attributed to the degree of portosystemic encephalopathy was undoubtedly correlated with the reduction in the levels of serum ammonia concentrations, recorded after only 3 days of treatment. Tolerability of the treatment with rifaximin was decidedly higher with respect to lactulose. The greater rapidity of action and the lack of side-effects with rifaximin recommend the use of this intestinal antibiotic in patients with medium to severe portosystemic encephalopathy.
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An epidemiological survey of hereditary ataxias and paraplegias was conducted in Molise, a region of Italy (335, 211 inhabitants on 1 January 1989). Total prevalence was 7.5 x 10(-5) inhabitants (95% confidence limits 4.8-11.1). There were 7 patients with Friedreich's disease, 5 with early onset cerebellar ataxia with retained tendon reflexes, 4 with ataxia-telangiectasia, 9 with hereditary spastic paraplegias (2 autosomal dominant and 7 autosomal recessive cases). There was no patient with autosomal dominant cerebellar ataxia.
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The purpose of these studies was to quantify the effects of radiation given to mouse lungs at intervals up to 6 months after injection of the maximally tolerated dose of cyclophosphamide. In one set of experiments a single i.p. injection of 300 mg/kg of cyclophosphamide was followed at either 1, 3, or 6 months by a range of single doses of gamma-rays delivered to the whole thorax only. In a second set of experiments mice were given five daily i.p. injections of cyclophosphamide, 100 mg/kg, followed at 1, 3, and 6 months by a range of fractionated doses of X-rays. Breathing rate, histology, and mortality were used to assess lung damage. These data were compared with age-matched animals given either the drug alone or single doses of radiation alone. Dose-response curves of lethality were constructed and fitted by a logit program, and 50% lethal doses with 95% confidence limits were determined at monthly intervals after irradiation. Dose enhancement factors were then calculated at this isoeffect for the mice given the drug and radiation. Deaths from radiation pneumonitis occurred as early as 6 weeks in mice given cyclophosphamide before irradiation; few deaths occurred after 26 weeks. However, in the mice given radiation alone, deaths from pneumonitis did not occur before 12 weeks. Cyclophosphamide given as either single doses or fractionated doses at all three times before irradiation enhanced radiation pneumonitis in mouse lung. Dose enhancement factors of 1.2, 1.4, and 1.3 were obtained when single doses of radiation followed single doses of cyclophosphamide at 1, 3, and 6 months, respectively. The dose enhancement factor for radiation pneumonitis after the fractionated exposures was less, 1.1, and was independent of time between the two treatments. An enhancement factor of 1.2 was observed for the later wave of lung damage in those few studies available for analysis at this time. These data clearly show that prior treatment of the animal with cyclophosphamide significantly reduces the radiation dose that can be given to the lung for as long as 6 months after drug treatment. In addition, lung damage occurred sooner when the drug was given prior to irradiation. These data indicate that the lung will be sensitive to retreatment with radiation when a full tolerance dose of cyclophosphamide precedes radiation.
Ten years of controlled clinical trials supported single-dose therapy efficacy and safety in uncomplicated lower urinary tract infections (UTI). Both local and systematic factors contribute to the high UTI prevalence seen in elderly people. A controlled open randomized study was undertaken to evaluate the clinical efficacy and safety of a new fosfomycin derivative (fosfomycin trometamol) given in a single dose in the treatment of uncomplicated lower UTIs in 60 elderly subjects (mean age 68.4 years). A single 3-gram fosfomycin trometamol dose was compared to a 7-day treatment with norfloxacin 400 mg b.i.d. Midstream urocultures and susceptibility tests were performed to diagnose a UTI and at 3-5 and 25-35 days after discontinuation of therapies. Our results, showing comparable clinical and bacteriological resolution rates in both groups (76.6 and 73.3% in the fosfomycin-trometamol- and norfloxacin-treated subjects, respectively), support the single-dose fosfomycin trometamol efficacy in uncomplicated lower UTIs in an elderly population, suggesting it as a convincing alternative to longer therapeutic regimens.
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Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon vascular inflammatory lesion usually involving the dermis or subcutaneous tissue of the head-neck region of middle-aged women. Histologically, this lesion shows a florid proliferation of vessels lined by particular endothelial cells and an inflammatory infiltrate composed of lymphocytes and eosinophils. The fine-needle aspiration (FNA) cytology of a nodular lesion in the retroauricolar region of a 18-yr-old woman showed spindle-shaped and polygonal cells with vesicular nuclei and deeply eosinophilic cytoplasm containing well-defined vacuoles in a background of eosinophils and lymphocytes. These features were consistent with a proliferation of epithelioid endothelial cells, and a diagnosis of ALHE was suggested. The histology confirmed the preoperatory diagnosis, and ultrastructural and immunohistochemical studies further demonstrated the endothelial nature of epithelial-appearing cells. Because the clinical appearance of the lesion may mimic a large number of benign and malignant diseases, a preoperatory diagnosis of ALHE is rarely made. The FNA cytology may represent a simple and reliable method with which to study and diagnose proliferations of epithelioid endothelial cells.
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