E Buscarini

Ospedale Maggiore Carlo Alberto Pizzardi di Bologna, Bolonia, Emilia-Romagna, Italy

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Publications (136)344.58 Total impact

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    ABSTRACT: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular malformations. The genes known to be associated with HHT include ENG (HHT1), ACVRL1 (HHT2) and SMAD4 (JPHT). It has been reported that circulating CD34+ cell subsets repair damaged vessels. To investigate whether mobilization of these cells is present in the peripheral blood (PB) of HTT patients, we analyzed CD34+ cells, CD34+VEGFR-2+ progenitor or mature endothelial cells, and CD34+CD133+VEGFR-2− hematopoietic progenitor cells (HPCs). Cytofluorimetric analysis was performed in 150 HTT patients and 43 healthy subjects (CTRLs). In HTT patients, PB CD34+ cells were significantly increased; the frequency of endothelial cells was higher (P = 0.002), while the frequency of CD34+CD133+VEGFR-2− HPCs was lower (P = 0.00007) than in CTRLs. Results were comparable in patients with ENG or ACVRL1 gene mutation; in patients with ENG mutation, the frequency of the cell subsets inversely correlated with the age of the patients at time of sampling (CD34+), disease duration (CD34+VEGFR-2+), and age at disease onset (CD34+CD133+VEGFR-2−). In conclusion, HHT patients show an increase of circulating endothelial cells and a decrease of HPCs. In patients with ENG mutation, the frequency of CD34+ endothelial cells correlates with specific clinical characteristics suggesting that their active turnover characterizes the initial phase of the disease.
    International Journal of Hematology 12/2014; · 1.68 Impact Factor
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    ABSTRACT: Prevalence of gastroduodenal lesions is changing in the last decades. Prevalence of Helicobacter pylori infection, non-steroidal anti-inflammatory drugs (NSAIDs), and proton pump inhibitor (PPI) therapy may be involved in such a phenomenon. We assessed gastroduodenal lesions prevalence in a nationwide study.
    European Journal of Internal Medicine 09/2014; · 2.30 Impact Factor
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    ABSTRACT: Background The burden of gastric precancerous conditions and factors associated with their detection have not been fully investigated in community-based settings. Little is known about adherence to Sydney system for histopathology of gastric biopsies.Objective We aimed to investigate what really happens in clinical practice with regard to the detection of gastric atrophy and intestinal metaplasia in dyspeptic patients.Methods We performed a nationwide survey of 979 consecutive patients (50–65 years old) with dyspeptic symptoms, examined at 24 gastrointestinal endoscopy units throughout Italy. Clinical information was collected from questionnaires; a standard bioptic mapping was performed in each unit, biopsies from each patient were analyzed by histopathology performed according to daily clinical practice in each local histopathology center.ResultsSeparate descriptions of antral and corporal biopsies were included in 679 pathology reports (69%), whereas Sydney system was applied in 324 reports (33%). Gastric atrophy without intestinal metaplasia (GA) and gastric atrophy with intestinal metaplasia (GIM) were detected in 322 (33%) patients. The full adherence to Sydney system significantly increased the probability of detecting GIM (OR 9.6, 95% CI 5.5–16.7), GA (OR 1.92, 95% CI 1.07–3.44), and either of the conditions (OR 6.67, 95% CI 4.36–10.19).Conclusions This nationwide survey showed that in one-third of dyspeptic patients, gastric precancerous conditions are detected. In daily routine practice, only 1/3 of histology reports were worked out adhering to Sydney system showing that international guidelines are poorly observed in clinical practice. This may represent a critical element for surveillance strategies for gastric cancer.
    Helicobacter 08/2014; · 3.51 Impact Factor
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    ABSTRACT: This report contains clinically oriented guidelines for the diagnostic work-up and follow-up of cystic pancreatic neoplasms in patients fit for treatment. The statements were elaborated by working groups of experts by searching and analysing the literature, and then underwent a consensus process using a modified Delphi procedure. The statements report recommendations regarding the most appropriate use and timing of various imaging techniques and of endoscopic ultrasound, the role of circulating and intracystic markers and the pathologic evaluation for the diagnosis and follow-up of cystic pancreatic neoplasms.
    05/2014;
  • 04/2014; 104(4):256-7.
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    ABSTRACT: This study aimed to investigate whether pulmonary shunt grade on transthoracic contrast echocardiography (TTCE) predicts the size of pulmonary arteriovenous malformations (PAVMs) on chest computed tomography (CT) and subsequent feasibility for transcatheter embolotherapy.We prospectively included 772 persons with possible or definite hereditary haemorrhagic telangiectasia, who underwent both TTCE and chest CT for screening of PAVMs. A quantitative three-point grading scale was used to classify the pulmonary shunt size on TTCE (grade 1-3). Transcatheter embolotherapy was performed for PAVMs deemed large enough for endovascular closure on chest CT.TTCE documented pulmonary shunting in 510 (66.1%) patients. The positive predictive value of a pulmonary shunt grade 1, 2 and 3 on TTCE for presence of PAVMs on chest CT was 13.4%, 45.3% and 92.5%, respectively (p<0.001). None of the 201 persons with a pulmonary shunt grade 1 on TTCE had PAVMs on chest CT large enough for transcatheter embolotherapy, while 38 (25.3%) and 123 (77.4%) individuals with a pulmonary shunt grade 2 and 3 on TTCE, respectively, underwent endovascular closure of PAVMs.Pulmonary shunt grade on TTCE predicts the size of PAVMs on chest CT and their feasibility for subsequent transcatheter embolotherapy. Chest CT can be safely withheld from all persons with a pulmonary shunt grade 1 on TTCE, as any PAVM found in these subjects will be too small for transcatheter embolotherapy.
    European Respiratory Journal 03/2014; · 6.36 Impact Factor
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    ABSTRACT: In 2011 the three major Italian gastroenterological scientific societies (AIGO, the Italian Society of Hospital Gastroenterologists and Endoscopists; SIED, the Italian Society of Endoscopy; SIGE, the Italian Society of Gastroenterology) prepared their official document aimed at analysing medical care for digestive diseases in Italy, on the basis of national and regional data (Health Ministry and Lombardia, Veneto, Emilia-Romagna databases) and to make proposals for planning of care. Digestive diseases were the first or second cause of hospitalizations in Italy in 1999–2009, with more than 1,500,000 admissions/year; however only 5–9% of these admissions was in specialized Gastroenterology units. Reported data show a better outcome in Gastroenterology Units than in non-specialized units: shorter average length of stay, in particular for admissions with ICD-9-CM codes proxying for emergency conditions (6.7 days versus 8.4 days); better case mix (higher average diagnosis-related groups weight in Gastroenterology Units: 1 vs 0.97 in Internal Medicine units and 0.76 in Surgery units); lower inappropriateness of admissions (16–25% versus 29–87%); lower in-hospital mortality in urgent admissions (2.2% versus 5.1%); for patients with urgent admissions due to gastrointestinnal haemorrhage, in-hospital mortality was 2.3% in Gastroenterology units versus 4.0% in others. The present document summarizes the scientific societies’ official report, which constitutes the “White paper of Italian Gastroenterology”.
    Digestive and Liver Disease. 01/2014;
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    ABSTRACT: The scarcity of human and structural resources for specialized gastroenterology care is a problem in many Western countries. Data regarding the resources for Italian Gastroenterology, so far lacking, have been thus searched and evaluated. Based on an agreement protocol between the Italian Association of Hospital Gastroenterologists and Endoscopists (AIGO) and the Ministry of Health, national data regarding all Institutions providing gastroenterological care were analysed. Hospital beds in Gastroenterology units are presented by region, regimen of stay and per million inhabitants as of January 2011. Association of Hospital Gastroenterologists and Endoscopists also performed a survey of gastroenterology units in all Italian regions regarding number of ordinary/day hospital beds and the number of staff gastroenterologists. The Ministry data showed a total of 174 Gastronterology Units in Italy, a total of 2062 hospital beds for the discipline, for a proportion of 34.2 beds per million inhabitants. The Association of Hospital Gastroenterologists and Endoscopists survey showed a total of 1425 gastroenterologists in Italy. These data should represent a key reference for appropriate planning of specialized care for digestive diseases.
    Digestive and Liver Disease 01/2014; · 3.16 Impact Factor
  • Digestive and Liver Disease 03/2013; 45:S87. · 3.16 Impact Factor
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    ABSTRACT: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Mutations in either ENG or ACVRL1 account for around 85% of cases, and 10% are large deletions and duplications. Here we present a large novel deletion in ACVRL1 gene and its molecular characterization in a 3 generation Italian family. We employed short tandem repeats (STRs) analysis, direct sequencing, multiplex ligation-dependant probe amplification (MLPA) analysis, and 'deletion-specific' PCR methods. STRs Analysis at ENG and ACVRL1 loci suggested a positive linkage for ACVRL1. Direct sequencing of this gene did not identify any mutations, while MLPA identified a large deletion. These results were confirmed and exactly characterized with a 'deletion-specific' PCR: the deletion size is 4,594 bp and breakpoints in exon 3 and intron 8 show the presence of short direct repeats of 7 bp [GCCCCAC]. We hypothesize, as causative molecular mechanism, the replication slippage model. Understanding the fine mechanisms associated with genomic rearrangements may indicate the nonrandomness of these events, highlighting hot spots regions. The complete concordance among MLPA, STRs analysis and 'deletion-specific PCR' supports the usefulness of MLPA in HHT molecular analysis.
    Molecular syndromology 03/2013; 4(3):119-24.
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    ABSTRACT: BACKGROUND: A pulmonary right-to-left shunt (RLS) carries the risk of cerebral paradoxical embolization and severe neurological complications. Recognising patients at risk is important to facilitate appropriate management strategies, but a direct relation between pulmonary shunt size and risk of complications remains controversial. OBJECTIVE: This study evaluated the potential relation between pulmonary shunt size on transthoracic contrast echocardiography (TTCE) and prevalence of cerebral manifestations in persons screened for hereditary haemorrhagic telangiectasia (HHT). METHODS: We conducted a two-center, cross-sectional study of all consecutive persons screened for HHT between 2004 and 2011. Pulmonary shunt grading was performed according to contrast opacification of the left ventricle on TTCE (grade 0, no microbubbles; 1, <30 microbubbles; 2, 30-100 microbubbles; 3, >100 microbubbles). Cerebral manifestations were defined as ischemic stroke, transient ischemic attack or brain abscess, diagnosed by a neurologist and confirmed by appropriate imaging techniques. RESULTS: A pulmonary RLS was present in 530 out of 1038 patients (51.1%, mean age 44.3±15.6 years, 58.6% women). The presence of a cerebral manifestation (n=51) differed significantly between pulmonary shunt grades on TTCE; 1.4%, 0.4%, 6.5% and 20.9% for grade 0, 1, 2 and 3 respectively. Pulmonary shunt grade 1 was not associated with an increased prevalence of cerebral manifestations (OR 0.44, 95%CI 0.05-4.13, p=0.47), while pulmonary shunt grade 2 (OR 4.78, 95%CI 1.14-20.0, p=0.03) and grade 3 (OR 10.4, 95%CI 2.4-45.3, p=0.002) were both independent predictors for the prevalence of a cerebral ischemic event or brain abscess. CONCLUSION: Pulmonary RLS grade on TTCE is strongly associated with the prevalence of cerebral complications in patients screened for HHT.
    Chest 02/2013; · 7.13 Impact Factor
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    ABSTRACT: BACKGROUND: Defensive medicine is becoming more frequent behaviour and has an impact on the economic 'health' of national healthcare systems. AIM: The aim of this study was to clarify the impact of defensive medicine on gastroenterological practices in Lombardy. METHODS: Gastroenterologists attending the Lombardy Annual Gastroenterological Conference received a questionnaire based on multiple choice tests and visual analogue scales. The questionnaire was divided into three parts evaluating the respondent's characteristics, the number of procedures prescribed, and the percentage of those performed with a defensive purpose. RESULTS: Sixty-four of 107 participants (60%) completed the questionnaire, 94% of whom reported practising defensive medicine. The percentage of defensively requested procedures amounted to 18% of all digestive endoscopies, 8.9% of abdominal ultrasonography scans, 4.9% of abdominal computed tomography or magnetic resonance scans, and 12.2% of all consultations. The total number of defensive procedures prescribed per month by the participants was 878, and 31.7% of the performed procedures (n=4897) were reported to defensively based. On the basis of the 2012 regional reimbursement fees, the yearly cost of defensive procedures prescribed and/or performed by all gastroenterologists in Lombardy was estimated to be € 8,637,835. CONCLUSIONS: Our findings indicate that defensive medicine profoundly affects current medical practices among gastroenterologists, and has a considerable economic impact.
    Digestive and Liver Disease 02/2013; · 3.16 Impact Factor
  • Digestive and Liver Disease 01/2012; 44(5):e9. · 3.16 Impact Factor
  • Stefania De Lisi, Gioacchino Leandro, Elisabetta Buscarini
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    ABSTRACT: Acute biliary pancreatitis (ABP) is a clinical condition that can rapidly evolve into a life-threatening one. Endoscopic retrograde cholangiopancreatography (ERCP) has been considered the standard treatment of ABP for many years, though it entails the risk of morbidity and mortality. Endoscopic ultrasonography (EUS) can reliably diagnose choledocholithiasis avoiding unnecessary ERCP in patients with no stones in the biliary tract. We undertook a systematic review of the randomized controlled trials and clinical trials comparing EUS and ERCP to evaluate procedure performance, complication rates, clinical course of pancreatitis, and hospital stay according to the treatment given. A computerized bibliographic search was performed from 1994 to April 2010. Two reviewers assessed the methodological quality of eligible trials and independently extracted data from the included trials. Seven studies enrolled 545 patients with acute pancreatitis of suspected biliary origin. Only one was a randomized controlled trial. EUS had a lower failure rate than ERCP in all the studies included, avoiding ERCP in 71.2% of cases. No complications were related to EUS, whereas sphincterotomy was associated with bleeding in up to 22% of patients. The procedures did not influence the clinical course of pancreatitis. A strategy based on EUS before ERCP in patients with ABP may be an effective alternative to diagnostic ERCP.
    European journal of gastroenterology & hepatology 05/2011; 23(5):367-74. · 1.66 Impact Factor
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    ABSTRACT: Endoscopic ultrasonography is an established diagnostic tool for pancreatic masses and chronic pancreatitis. In recent years there has been a growing interest in the worldwide medical community in autoimmune pancreatitis (AIP), a form of chronic pancreatitis caused by an autoimmune process. This paper reviews the current available literature about the endoscopic ultrasonographic findings of AIP and the role of this imaging technique in the management of this protean disease.
    World Journal of Gastroenterology 04/2011; 17(16):2080-5. · 2.55 Impact Factor
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    ABSTRACT: Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, muco-cutaneous telangiectasias, and, in some cases, life-threatening visceral arteriovenous malformations. Ocular abnormalities include conjunctival telangiectasia, arteriovenous fistula, angiectasia, phlebectasia, and angioma. We describe the ocular abnormalities in 8 patients from a pedigree with hereditary hemorrhagic telangiectasia. This article also reviews and discusses the relevant literature. Five patients (62.5%) had conjunctival telangiectasias and 3 (37.5%) retinal abnormalities, consisting mainly of choriocapillaris atrophy. To the best of our knowledge, this is the first report describing the occurrence of choriocapillaris atrophy in patients affected by hereditary hemorrhagic telangiectasia and belonging to the same pedigree.
    Ophthalmic Genetics 03/2011; 32(1):12-7. · 1.07 Impact Factor
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    ABSTRACT: Hereditary hemorrhagic telangiectasia is a genetic disease characterized by teleangiectasias involving virtually every organ. There are limited data in the literature regarding the natural history of liver vascular malformations in hemorrhagic telangiectasia and their associated morbidity and mortality. This prospective cohort study sought to assess the outcome of liver involvement in hereditary hemorrhagic telangiectasia patients. We analyzed 16 years of surveillance data from a tertiary hereditary hemorrhagic telangiectasia referral center in Italy. We considered for inclusion in this study 502 consecutive Italian patients at risk of hereditary hemorrhagic telangiectasia who presented at the hereditary hemorrhagic telangiectasia referral center and underwent a multidisciplinary screening protocol for the diagnosis of hereditary hemorrhagic telangiectasia. Of the 502 individuals assessed in the center, 154 had hepatic vascular malformations and were the subject of the study; 198 patients with hereditary hemorrhagic telangiectasia and without hepatic vascular malformations were the controls. Additionally, we report the response to treatment of patients with complicated hepatic vascular malformations. The 154 patients were included and followed for a median period of 44 months (range 12-181); of these, eight (5.2%) died from VM-related complications and 39 (25.3%) experienced complications. The average incidence rates of death and complications were 1.1 and 3.6 per 100 person-years, respectively. The median overall survival and event-free survival after diagnosis were 175 and 90 months, respectively. The rate of complete response to therapy was 63%. This study shows that substantial morbidity and mortality are associated with liver vascular malformations in hereditary hemorrhagic telangiectasia patients.
    Digestive Diseases and Sciences 02/2011; 56(7):2166-78. · 2.26 Impact Factor
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    ABSTRACT: Activin A receptor, type II-like kinase 1 (also called ALK1), is a serine-threonine kinase predominantly expressed on endothelial cells surface. Mutations in its ACVRL1 encoding gene (12q11-14) cause type 2 Hereditary Haemorrhagic Telangiectasia (HHT2), an autosomal dominant multisystem vascular dysplasia. The study of the structural effects of mutations is crucial to understand their pathogenic mechanism. However, while an X-ray structure of ALK1 intracellular domain has recently become available (PDB ID: 3MY0), structure determination of ALK1 ectodomain (ALK1(EC)) has been elusive so far. We here describe the building of a homology model for ALK1(EC), followed by an extensive bioinformatic analysis, based on a set of 38 methods, of the effect of missense mutations at the sequence and structural level. ALK1(EC) potential interaction mode with its ligand BMP9 was then predicted combining modelling and docking data. The calculated model of the ALK1(EC) allowed mapping and a preliminary characterization of HHT2 associated mutations. Major structural changes and loss of stability of the protein were predicted for several mutations, while others were found to interfere mainly with binding to BMP9 or other interactors, like Endoglin (CD105), whose encoding ENG gene (9q34) mutations are known to cause type 1 HHT. This study gives a preliminary insight into the potential structure of ALK1(EC) and into the structural effects of HHT2 associated mutations, which can be useful to predict the potential effect of each single mutation, to devise new biological experiments and to interpret the biological significance of new mutations, private mutations, or non-synonymous polymorphisms.
    PLoS ONE 01/2011; 6(10):e26431. · 3.53 Impact Factor
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    ABSTRACT: This paper gives practical guidelines for diagnosis and treatment of chronic pancreatitis. Statements have been elaborated by working teams of experts, by searching for and analysing the literature, and submitted to a consensus process by using a Delphi modified procedure. The statements report recommendations on clinical and nutritional approach, assessment of pancreatic function, treatment of exocrine pancreatic failure and of secondary diabetes, treatment of pain and prevention of painful relapses. Moreover, the role of endoscopy in approaching pancreatic pain, pancreatic stones, duct narrowing and dilation, and complications was considered. Recommendations for most appropriate use of various imaging techniques and of ultrasound endoscopy are reported. Finally, a group of recommendations are addressed to the surgical treatment, with definition of right indications, timing, most appropriate procedures and techniques in different clinical conditions and targets, and clinical and functional outcomes following surgery.
    Digestive and Liver Disease 11/2010; 42 Suppl 6:S381-406. · 3.16 Impact Factor
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    ABSTRACT: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. Mutations of the ENG and ACVRL1 genes cause at least 80% of cases. We report the first case of merkeloma found in a patient with HHT carrying an ENG mutation. We analysed the tumour with immunohistochemical methods using primary antibodies against CD105 (endoglin), TGF-β, Smad4, CD31 and CD34. Tumour cells were positive for Smad4, weakly positive for TGF-β, and negative for CD105. Vasal endothelial cells were highly positive for CD105, CD31 and CD34. No remarkable differences between cancer and normal cells in our patient or between the patient's merkeloma and two control merkelomas were observed. The presence of a merkeloma in an HHT patient could be an occasional association, but to certainly assume it further investigations are needed.
    Case Reports 01/2010; 2010.

Publication Stats

3k Citations
344.58 Total Impact Points

Institutions

  • 2005–2014
    • Ospedale Maggiore Carlo Alberto Pizzardi di Bologna
      • Department of Cardiology
      Bolonia, Emilia-Romagna, Italy
  • 2003–2013
    • Azienda Ospedaliera Ospedale Maggiore di Crema
      Crema, Lombardy, Italy
  • 2011
    • IEO - Istituto Europeo di Oncologia
      • Division of Endoscopy
      Milano, Lombardy, Italy
  • 2006–2011
    • University of Pavia
      • Department of Public Health, Neuroscience, Experimental and Forensic Medicine
      Pavia, Lombardy, Italy
  • 2010
    • Spedali Civili di Brescia
      Brescia, Lombardy, Italy
  • 2009–2010
    • Università degli Studi di Palermo
      Palermo, Sicily, Italy
  • 2008
    • University of Lyon
      Lyons, Rhône-Alpes, France
    • Azienda Sanitaria Ospedaliera S.Croce e Carle Cuneo
      Coni, Piedmont, Italy
  • 1993–2006
    • University of Milan
      • Department of Medical Sciences
      Milano, Lombardy, Italy
  • 2004
    • CRO Centro di Riferimento Oncologico di Aviano
      • Division of Gastroenterology
      Aviano, Friuli Venezia Giulia, Italy
  • 2000
    • National Heart, Lung, and Blood Institute
      Maryland, United States