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Elisabetta Buscarini

Publications and source records attributed to Elisabetta Buscarini.

11 recordsLinked to original sources
PubMed2007

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

PURPOSE: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by arteriovenous malformations (AVM), mostly cutaneous and mucous (telangiectases), but also involving the lungs (PAVM), liver (HAVM) and brain (CAVM). We studied the relationship between the phenotype and genotype in patients with a proven mutation in either ENG (HHT1) or ACVRL1 (HHT2). METHODS: Clinical features and their age of onset were compared between HHT1 and HHT2. The type of mutation was also analyzed. Clinical manifestations were distinguished from lesions found by screening. RESULTS: Ninety-three HHT1 patients and 250 HHT2 patients were included. Epistaxis occurred later in HHT2, with incomplete penetrance (P<0.0001). Symptomatic PAVMs were more frequent in HHT1 (34.4 vs. 5.2%, P<0.001), as were cerebral abscesses (7.5 vs. 0.8%, P=0.002). Gastrointestinal bleeding occurred more frequently in HHT2 (16.4 vs. 6.5%, P=0.017). Symptomatic hepatic involvement was only seen in HHT2 patients. PAVMs were more frequently detected in asymptomatic HHT1 patients (54 vs. 12.8%, P<0.0001). PAVMs and HAVMs were often family clustered in HHT1 and HHT2, respectively. Truncating mutations were associated with a higher frequency of epistaxis and telangiectasis, in HHT2. CONCLUSION: This study shows major differences between HHT1 and HHT2 phenotypes, which should be taken into account for future clinical studies.

Activin Receptors, Type II↗
PubMed2006

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↗
PubMed2006

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by the presence of telangiectases and arteriovenous malformations. In some families in whom a form of idiopathic pulmonary arterial hypertension cosegregated with HHT, mutations in the ACVRL1 gene were present. PURPOSE: We noninvasively measured the pulmonary artery systolic pressure (PASP) in a group of patients with HHT. METHODS: Doppler transthoracic echocardiography and mutation analysis by direct sequencing were used. RESULTS: We studied 68 patients (age 19-84 years, mean 50.75 + 15.11; 32 females) and PASP measurement was possible in 44 (64. 7%); in addition, 9 of them (20.5%) showed elevated values. Molecular analysis identified mutations in the ACVRL1 gene in 7 of these 9 subjects. Even on exclusion of relatives of the single case with known pulmonary hypertension, 5 of 37 patients (13.5%) still showed values higher than those of controls. CONCLUSION: The data indicate that elevated PASP values are a frequent and previously unrecognized complication of HHT. Because clinically significant pulmonary artery hypertension (a relevant cause of morbidity and mortality) may subsequently develop in these patients, we propose that the measurement of PASP should be included among the parameters recorded for all patients undergoing Doppler transthoracic echocardiography during routine clinical screening.

Activin Receptors, Type I↗
PubMed2006

Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.

STUDY PURPOSE: To formulate recommendations about clinical management of liver involvement in hereditary hemorrhagic telangiectasia (HHT), using a formal consensus development process. CONSENSUS PROCESS: A nominal group technique was used. A list of main clinical, diagnostic and therapeutic issues about liver involvement in HHT was generated by the organizing committee. Panel members then scored their agreement with each statement; the median score, and standard deviation for each statement were determined for each of the three successive panel rounds. These consensus statements formed the basis for recommendations graded with the strength and quality of supporting evidence. RECOMMENDATION STATEMENTS: Doppler US is sufficiently accurate and suitable for first-line imaging of the liver in the general HHT population. Liver biopsy in any patient with proven or suspected HHT should be avoided. Liver involvement in HHT is generally asymptomatic; in the minority of patients where it is symptomatic, morbidity and mortality can be substantial. The prevalence of focal nodular hyperplasia is much higher in patients with liver involvement by HHT than in the general population. Invasive therapies for liver involvement by HHT (namely liver transplantation) should be considered only in patients who have failed to respond to intensive medical therapy.

Cholestasis↗
PubMed2005

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↗
PubMed2004

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↗
PubMed2003

Radiofrequency thermal ablation with expandable needle of focal liver malignancies: complication report.

The aim of this study was to describe type and rate of complications in a series of patients with liver tumors treated by the radiofrequency (RF) expandable system. A total of 166 patients, 114 with hepatocellular carcinoma (HCC; 92 small HCC, 22 large) and 52 with liver metastasis, were treated by the percutaneous RF expandable system. In large HCCs, RF ablation was performed after tumor ischemia (TAE or balloon stop flow of the hepatic artery). Major complications were those that delayed hospital discharge, with or without additional medical procedures or treatments. Minor complications did not require an additional hospital stay. No deaths occurred. Among 151 patients followed, there were 7 (4.6%) early major complications-severe pain with session interruption in 3 cases, capsular necrosis in 1 case, 1 abdominal wall necrosis, 1 dorsal burning, 1 peritoneal hemorrhage-and 3 (1.9%) delayed major complications: sterile fluid collection at the site of the treated tumor in 2 cases and cutaneous seeding in 1 case. There were 49 (32.5%) minor complications. The complication rate is similar to that observed after percutaneous alcohol injection (PEI). With the cooled system, the complication rate is seemingly lower but that may well be due to a different definition of major complications. The seeding rate after expandable system ablation is lower than after PEI. It is the same as or lower than that in other series of patients treated by the cooled system.

Adult↗
PubMed2003

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↗
PubMed2002

Interobserver agreement in staging gastric malt lymphoma by EUS.

BACKGROUND: EUS is highly accurate for staging gastric lymphoma. Because stage correlates to outcome, interobserver agreement is mandatory. However, previous studies suggest that interobserver agreement might vary according to T-stage. A multicenter evaluation of observer agreement with respect to endosonographic staging of gastric mucosa-associated lymphoid tissue (MALT) lymphoma was therefore conducted. METHODS: Fifty-four patients were studied; 42 were also evaluated after eradication of Helicobacter pylori infection. EUS was performed at different institutions by 10 experienced endosonographers who collected the best photographs for each examination. Interobserver agreement was estimated with kappa statistics. RESULTS: Overall interobserver agreement for T-stage was fair, both before and after treatment (kappa = 0.38 and kappa = 0.37, respectively). Overall interobserver agreement for N-stage was substantial before treatment, but only fair after treatment (kappa = 0.63 and kappa = 0.34, respectively). The lowest values of agreement occurred with T1sm (submucosa) and T2 stage lesions. CONCLUSIONS: Interobserver agreement for staging of gastric MALT lymphoma by EUS is suboptimal before as well as after treatment of H pylori infection. This evidence suggests that gastric EUS may be more difficult technically compared with EUS of other organs. Lack of agreement is crucial because it influences the choice of therapy and assessment of response to treatment. Good interobserver agreement would permit better communication concerning the clinical status of patients, comparison of the results of different studies, and stratification of patients within clinical trials.

Clinical Competence↗
PubMedDate not supplied

Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia.

BACKGROUND: Recurrent epistaxis is the most common manifestation of hereditary hemorrhagic telangiectasia (HHT). The aim of this study was to determine the role and efficacy of argon plasma coagulation (APC) in the management of epistaxis caused by HHT. METHODS: From 1997 to 2004, 43 patients with diagnosed HHT were treated for recurrent epistaxis with APC in our department. RESULTS: Thirty-six patients reported substantial reduction of bleeding after treatment. Of the 18 patients who previously needed blood transfusions, 13 reported substantial reduction of bleeding after treatment and no blood transfusions were necessary. CONCLUSION: APC allows a control of epistaxis in HHT patients and guarantees a long time free from blood transfusions. This treatment modality can be performed with local anesthesia, is not invasive, is well tolerated, is inexpensive, and can be used as a first step even in patients who need to undergo several blood transfusions for their epistaxis.

Adult↗