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Biomedical subjects

Alessandro Zambelli

Publications and source records attributed to Alessandro Zambelli.

5 recordsLinked to original sources

Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature.

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominant multicancer syndrome caused by the germline mutation of a tumor suppressor gene. Affected individuals develop benign and malignant tumors of the central nervous system, kidneys, adrenal glands, pancreas, and reproductive system. Although VHL disease is mainly diagnosed after the detection of central nervous system tumors, they may not always be the first presentation. CASE REPORT: We report the case of a patient presenting with pancreatic cysts for whom the final genetic diagnosis of VHL disease was formulated. During management, the use of endoscopic ultrasonography (EUS) proved to be valid in the characterization of the pancreatic lesions. Family screening also revealed the genetic mutation in the patient's son and imaging investigations showed the presence of multiple tumors. The diagnosis allowed us to plan appropriate follow-up for both, thus improving their life expectancy. CONCLUSIONS: Gastroenterologists should be aware of the frequent pancreatic involvement in VHL disease and EUS can be useful in this setting.

Adult↗

Radiofrequency thermal ablation of liver tumors.

Radiofrequency ablation (RFA) of liver tumors was first proposed in 1990. New technologies enable us to produce liver thermal lesions of approximately 3-3.5 cm in diameter; RFA has consequently become an emerging percutaneous therapeutic option both for small hepatocellular carcinoma (HCC) and for non-resectable liver metastases, mainly from colorectal cancer. New devices (for example, triplet of cooled needles, wet needles) and combined therapies (tumor ischemia and RFA) have made it possible to treat large tumors. RFA can be carried out by a percutaneous, laparoscopic or laparotomic approach. Percutaneous RFA can be performed with local anaesthesia and mild sedation; deep sedation or general anaesthesia are also used. The guidance system is generally represented by ultrasound. CT or MR examinations are the more sensitive tests for assessing therapeutic results. The series of patients treated with RFA allow the technique to be considered as effective and safe, achieving a relatively high rate of cure in properly selected cases; it should be classified as curative/effective treatment for HCC, replacing percutaneous ethanol injection. The complication rate of RFA is low but not negligible; key elements in a strategy to minimize them are identified.

Carcinoma, Hepatocellular↗

High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia.

A vascular pathogenesis of hepatic focal nodular hyperplasia (FNH) has been suggested; this study was aimed to evaluate in families with hereditary hemorrhagic telangiectasia (HHT) the prevalence of FNH, relating it to presence and stage of hepatic vascular malformations (VMs). Fifty-two HHT families underwent a screening program including abdominal Doppler sonography (US) searching for hepatic VMs; we classified them as minimal, moderate and severe, depending on the number and degree of abnormalities found by Doppler US. Presence of focal liver lesions was recorded. Diagnosis of FNH was made if at least two examinations, whether color Doppler US, liver scintigraphy, dynamic computed tomography (CT) or magnetic resonance (MR), showed suggestive findings. FNH was found in five out of 274 subjects (1.8%). All five were affected by HHT. Thus, percentage related to the group of affected patients increased to 2.9; 4/5 presented severe liver VMs. Female-to-male ratio was 4:1. FNH was single in three cases; tumor size ranged between 20 and 90 mm. During follow-up, no lesion showed a reduction in size, three showed an increase. Prevalence of FNH in patients with HHT is far greater than that reported in the general population; Doppler US role in its diagnosis and follow-up is highlighted.

Adolescent↗

EUS for suspected choledocholithiasis: do benefits outweigh costs? A prospective, controlled study.

BACKGROUND: This prospective study of the use of EUS to prevent unnecessary endoscopic retrograde cholangiography in patients with suspected choledocholithiasis has two aims: to evaluate the effectiveness, based on patient outcome, and the potential clinical and economic benefits of EUS. METHODS: A prospective series of 485 patients (202 men, 283 women; mean age 66.2 years, range 20-94 years) suspected to have choledocholithiasis based on clinical, biochemical, and cross-sectional imaging (US or CT) data underwent EUS. Positive EUS findings were confirmed by endoscopic retrograde cholangiography with sphincterotomy and/or by surgery; negative findings were confirmed by clinical follow-up. An EUS result was considered a true negative if the patient was confirmed symptom-free with normal tests on follow-up of at least 6 months. The costs of EUS (procedure, days of hospitalization, any morbidity) were compared with the estimated costs of the endoscopic retrograde cholangiography avoided in patients with true-negative EUS findings. RESULTS: EUS findings were verified in 463 patients: EUS diagnosed choledocholithiasis in 239 (51.6%) and the absence of stones in 220 patients. In 4 patients (0.8%), EUS was incomplete. By sphincterotomy (209 patients), surgical bile duct exploration (39), percutaneous cholangiography (1 case in which EUS demonstrated a bile duct tumor), and follow-up (214), EUS diagnoses were confirmed as follows: 237 true-positive, 216 true-negative, 2 false-positive, 4 false-negative, 4 incomplete (sensitivity 98%, specificity 99%, positive predictive value 99%, negative predictive value 98%, accuracy 97%). In 214 (46%) patients, more invasive investigations of the bile duct were avoided. The mean cost for patients managed by the EUS-based strategy was ' 374.50 (-284.72), which was significantly less than the theoretical mean cost of ' 443.80 (p < 0.001) for patients undergoing endoscopic retrograde cholangiography. CONCLUSIONS: The results of this study confirm that EUS is highly reliable for the diagnosis of choledocholithiasis. Its use offers considerable clinical and economic advantages by preventing inappropriate and more invasive evaluation of the bile duct.

Adult↗