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Hereditary haemorrhagic telangiectasia is a genetic condition of abnormal blood vessel formation resulting from an imbalance of pro- and anti-angiogenic products of the transforming growth factor ß/bone morphogenetic protein signalling pathway which contributes to vascular remodelling and maintenance. Hepatic vascular malformations are common although less frequently symptomatic, but may result in high-output cardiac failure, portal hypertension and biliary ischaemia. Whilst the understanding of the genetic and cell signalling pathways that are the hallmark of hereditary haemorrhagic telangiectasia have been clarified, there remain challenges in therapy for these patients. Only patients with symptomatic hepatic vascular malformations require treatment, with most (63%) responding to first-line medical therapy. For non-responders, bevacizumab is effective in reducing cardiac output in those with heart failure secondary to hepatic vascular malformations as well as other manifestations of the disease. Although liver transplantation is the only curative option, optimal timing is critical. Novel anti-angiogenetic drugs and those that target aberrant cell signalling pathway are being explored.
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BACKGROUND : It is unknown whether there is an advantage to using the wet-suction or slow-pull technique during endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) with new-generation needles. We aimed to compare the performance of each technique in EUS-FNB. METHODS: This was a multicenter, randomized, single-blind, crossover trial including patients with solid lesions of ≥â1âcm. Four needle passes with 22âG fork-tip or Franseen-type needles were performed, alternating the wet-suction and slow-pull techniques in a randomized order. The primary outcome was the histological yield (samples containing an intact piece of tissue of at least 550âµm). Secondary end points were sample quality (tissue integrity and blood contamination), diagnostic accuracy, and adequate tumor fraction. RESULTS: Overall, 210 patients with 146 pancreatic and 64 nonpancreatic lesions were analyzed. A tissue core was retrieved in 150 (71.4â%) and 129 (61.4â%) cases using the wet-suction and the slow-pull techniques, respectively (Pâ=â0.03). The mean tissue integrity score was higher using wet suction (Pâ=â0.02), as was the blood contamination of samples (Pâ<â0.001). In the two subgroups of pancreatic and nonpancreatic lesions, tissue core rate and tissue integrity score were not statistically different using the two techniques, but blood contamination was higher with wet suction. Diagnostic accuracy and tumor fraction did not differ between the two techniques. CONCLUSION: Overall, the wet-suction technique in EUS-FNB resulted in a higher tissue core procurement rate compared with the slow-pull method. Diagnostic accuracy and the rate of samples with adequate tumor fraction were similar between the two techniques.
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Neoplasias Pancreáticas , Humanos , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/patologia , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Sucção/métodos , Estudos Cross-Over , Método Simples-Cego , Pâncreas/diagnóstico por imagem , Pâncreas/patologiaRESUMO
Coronavirus disease 2019 (COVID-19) is a major worldwide threat caused by a novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), rapidly spreading to a global pandemic. As of May 11, 2020, 4,176,346 cases have been reported worldwide, 219,814 in Italy, and of them, 81,871 occurred in the Lombardy region.1 Although the respiratory manifestations of COVID-19 have been widely described, the impact on the gastrointestinal (GI) system remains less clear. The reported prevalence of digestive symptoms ranges from 3% to 79%, depending on the setting,2-5 but data on GI endoscopic and histologic findings in COVID-19 patients are lacking. Therefore, the aim of this study is to describe the GI endoscopic and histologic findings in COVID-19 patients.
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Betacoronavirus , Infecções por Coronavirus/diagnóstico , Doenças do Sistema Digestório/diagnóstico , Endoscopia Gastrointestinal/métodos , Pneumonia Viral/diagnóstico , Idoso , COVID-19 , Infecções por Coronavirus/complicações , Infecções por Coronavirus/epidemiologia , Doenças do Sistema Digestório/etiologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/epidemiologia , Estudos Retrospectivos , SARS-CoV-2RESUMO
BACKGROUND AND AIMS: Linked-color imaging (LCI), a new image-enhancing technology emphasizing contrast in mucosal color, has been demonstrated to substantially reduce polyp miss rate as compared with standard white-light imaging (WLI) in tandem colonoscopy studies. Whether LCI increases adenoma detection rate (ADR) remains unclear. METHODS: Consecutive subjects undergoing screening colonoscopy after fecal immunochemical test (FIT) positivity were 1:1 randomized to undergo colonoscopy with LCI or WLI, both in high-definition systems. Insertion and withdrawal phases of each colonoscopy were carried out using the same assigned light. Experienced endoscopists from 7 Italian centers participated in the study. Randomization was stratified by gender, age, and screening round. The primary outcome measure was represented by ADR. RESULTS: Of 704 eligible subjects, 649 were included (48.9% men, mean age ± standard deviation, 60.8 ± 7.3 years) and randomized to LCI (n = 326) or WLI (n = 323) colonoscopy. The ADR was higher in the LCI group (51.8%) than in the WLI group (43.7%) (relative risk, 1.19; 95% confidence interval, 1.01-1.40). The proportions of patients with advanced adenomas and sessile serrated lesions were, respectively, 21.2% and 8.6% in the LCI arm and 18.9% and 5.9% in the WLI arm (not significant for both comparisons). At multivariate analysis, LCI was independently associated with ADR, along with male gender, increasing age, and adequate (Boston Bowel Preparation Scale score ≥6) bowel preparation. At per-polyp analysis, the mean ± standard deviation number of adenomas per colonoscopy was comparable in the LCI and WLI arms, whereas the corresponding figures for proximal adenomas was significantly higher in the LCI group (.72 ± 1.2 vs .55 ± 1.07, P = .05) CONCLUSIONS: In FIT-positive patients undergoing screening colonoscopy, the routine use of LCI significantly increased the ADR. (Clinical trial registration number: NCT03690297.).
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Adenoma , Neoplasias Colorretais , Adenoma/diagnóstico por imagem , Idoso , Colonoscopia , Neoplasias Colorretais/diagnóstico por imagem , Detecção Precoce de Câncer , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-IdadeRESUMO
Over the last decade, impressive technological advances have occurred in ultrasonography and small-bowel endoscopy. Nowadays, endoscopic ultrasonography is an essential diagnostic tool and a therapeutic weapon for pancreatobiliary disorders. Capsule endoscopy and device-assisted enteroscopy have quickly become the reference standard for the diagnosis of small-bowel luminal diseases, thereby leading to radical changes in diagnostic and therapeutic pathways. We herein provide an up-to-date overview of the latest advances in endoscopic ultrasonography and small-bowel endoscopy, focusing on the emerging paradigms and technological innovations that might improve clinical practice in the near future.
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Endoscopia Gastrointestinal/tendências , Endossonografia/tendências , Enteropatias/diagnóstico , Intestino Delgado/diagnóstico por imagem , HumanosAssuntos
Betacoronavirus , Infecções por Coronavirus , Pandemias , Pneumonia Viral , COVID-19 , Humanos , Itália , SARS-CoV-2RESUMO
This technology review expresses the current view of the European Society of Gastrointestinal Endoscopy (ESGE) on the available techniques for intraductal biliopancreatic imaging. The three cholangioscopy techniques are described: the "dual-operator" and " single-operator" mother-baby approaches using dedicated instruments, and the "direct" technique using currently available ultrathin gastroscopes. The mother-baby method is standardized and reproducible, while direct cholangioscopy is technically demanding and its safety requires further evaluation. As well as direct visualization of the bile ducts, cholangioscopy has the further advantage of allowing targeted biopsy. Image quality is still suboptimal for single-operator cholangioscopy, while the other techniques have achieved adequately detailed imaging. The costs of mother-baby cholangioscopy are high and its application in clinical practice should be restricted to selected cases (i.e. indeterminate biliary strictures/intraluminal lesions, difficult biliary stones) and to the setting of tertiary care centers. Peroral pancreatoscopy may find an indication in situations where other imaging modalities (mainly EUS) are inconclusive (i.e. delineation of main duct intraductal papillary mucinous neoplasia extension, sampling of indeterminate main pancreatic duct strictures). Intraductal ultrasonography (IDUS) has a poorer performance than EUS in the staging of pancreatic malignancies and can increase the risk of pancreatitis. A promising indication for IDUS could be the evaluation of indeterminate biliary strictures and ampullary tumors. Probe-based confocal laser endomicroscopy (pCLE) of the bile ducts is a difficult and expensive technique. Appropriate training needs to be established, since interpretation of images is challenging. pCLE can be an important diagnostic tool in the setting of indeterminate biliary strictures.
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Doenças dos Ductos Biliares/diagnóstico , Endoscopia Gastrointestinal/métodos , Gastroenterologia , Pancreatopatias/diagnóstico , Sociedades Médicas , Ductos Biliares , Europa (Continente) , HumanosRESUMO
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.
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Malformações Arteriovenosas/diagnóstico , Ecocardiografia , Pulmão/fisiopatologia , Radiografia Torácica , Adulto , Idoso , Malformações Arteriovenosas/diagnóstico por imagem , Embolização Terapêutica/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Probabilidade , Estudos Prospectivos , Telangiectasia Hemorrágica Hereditária/complicações , Tomografia Computadorizada por Raios XRESUMO
Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis with a multifactorial pathogenesis. Historically, it has been classified as type 1 and type 2, according to its clinical and histological features. The diagnosis of AIP is challenging and relies on a combination of clinical, histopathologic, serologic, and imaging characteristics. In the available guidelines, the imaging hallmarks of AIP are based on cross-sectional imaging and cholangiopancreatography retrograde endoscopic findings. Endoscopic ultrasound (EUS) is generally used for pancreatic tissue acquisition to rule out pancreatic cancer and diagnose AIP with limited accuracy. Several papers reported the reliability of EUS for providing informative morphologic features of AIP. Nowadays, the improvement in the resolution of EUS conventional images and the development of new ancillary technologies have further increased the diagnostic yield of EUS: contrast-enhanced EUS and EUS elastography are non-invasive and real-time techniques that strongly support the diagnosis and management of pancreatic diseases. In this review article, we will present the role of conventional EUS and ancillary diagnostic techniques in the diagnosis of AIP to support clinicians and endosonographers in managing this condition.
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In this editorial, we explore the challenges of managing noncurative resections in early gastric cancer after endoscopic submucosal dissection (ESD), starting from the consideration recently made by Zhu et al. Specifically, we evaluate the management of eCura C1 lesions, where decisions regarding further interventions are pivotal yet contentious. Collaboration among endoscopists, surgeons, and pathologists is underscored to refine risk assessment and personalize therapeutic management. Recent advancements in ESD techniques and interdisciplinary collaboration offer opportunities for outcome optimization in managing eCura C1 lesions. Moreover, despite needing further clinical validation, molecular biomarkers have emerged as promising tools for enhancing prognostication. This manuscript highlights the ongoing research attempts to define treatment paradigms effectively and evaluates the potential of emerging options, ultimately aiming to improve patient care and outcomes in this complex clinical scenario.
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BACKGROUND: Both macroscopic and histological lesions are frequently detected at upper endoscopy in elderly patients. We assessed the prevalence of main endoscopic and histological alterations in elderly (> 65 years old) patients. METHODS: In this study, clinical, endoscopic and histological features of patients referred for upper endoscopy in clinical practice were retrieved. Both univariate and multivariate analyses were executed. Comparisons with previous data were performed. RESULTS: A total of 1336 underwent upper endoscopy in the 28 participating centres. At endoscopy, at least one macroscopic lesion was present in overall 420 (31.4%) patients. Erosive gastritis (13.3%) and erosive oesophagitis (9.8%) were the most prevalent lesions, whilst Barrett's oesophagus, gastric ulcer, duodenal ulcer and erosive duodenitis were observed in 1.8%, 2%, 1.4% and 3.1% patients, respectively. Nine (0.6%) cases of oesophageal, 25 (1.8%) gastric and 2 (0.1%) duodenal neoplasia were detected. At histology, Helicobacter pylori infection was diagnosed in 99 (15.9%) patients, and extensive precancerous lesions on gastric mucosa were detected in 80 (14.5%) patients. Endoscopic lesions were more frequent in males, at first endoscopy and in those with alarm symptoms and lower during PPI therapy. At multivariate analysis, PPI therapy significantly reduced the probability of finding endoscopic lesions (OR: 0.68, 95% CI: 0.46-0.99; P = 0.04), whilst neoplastic lesions were associated with presence of alarm symptoms (OR: 1.5, 95% CI: 1.1-2.1; P = 0.005). CONCLUSIONS: We found that the frequency of erosive and neoplastic lesions remained high in elderly patients, whilst the prevalence of both H. pylori infection and peptic ulcer was decreased.
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Acute cholecystitis (AC) is a very common disease in clinical practice. Laparoscopic cholecystectomy remains the gold standard treatment for AC, however due to aging population, the increased prevalence of multiple comorbidities and the extensive use of anticoagulants, surgical procedures may be too risky when dealing with patients in emergency settings. In these subsets of patients, a mini-invasive management may be an effective option, both as a definitive treatment or as bridge-to-surgery. In this paper, several non-operative treatments are described and their benefits and drawbacks are highlighted. Percutaneous gallbladder drainage (PT-GBD) is one of the most common and widespread techniques. It is easy to perform and has a good cost/benefit ratio. Endoscopic transpapillary gallbladder drainage (ETGBD) is a challenging procedure that is usually performed in high volume centers by expert endoscopists, and it has a specific indication for selected cases. EUS-guided drainage (EUS-GBD) is still not widely available, but it is an effective procedure that could have several advantages, especially in rate of reinterventions. All these treatment options should be considered together in a stepwise approach and addressed to patients after an accurate case-by-case evaluation in a multidisciplinary discussion. In this review, we provide a possible flowchart in order to optimize treatments, resource and provide to patients a tailored approach.
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Colecistectomia Laparoscópica , Colecistite Aguda , Humanos , Idoso , Endossonografia/métodos , Colecistite Aguda/cirurgia , Vesícula Biliar , Drenagem/métodosRESUMO
Focal active colitis (FAC) is described as a histolopathological term indicating the isolated finding of focal neutrophil infiltration in the colonic crypts. Currently, there exist numerous debates regarding the clinical significance of diagnosing FAC, which may or may not have clinical relevance as it is frequently detected in colorectal biopsies without any other microscopic abnormalities. The objective of this narrative review is to provide an overview of the available evidence concerning the clinical implications of FAC, both in the adult population (among five studies available in the scientific literature) and in the pediatric context (based on two available studies).
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OBJECTIVE: Intestinal metaplasia (IM) is the point of no return in gastric carcinogenesis, and patients with extensive (antrum plus corpus) IM are at high risk of developing gastric cancer. We evaluated the impact of improved gastroscopy quality on the detection of gastric IM in an Italian area at high risk for gastric cancer. METHODS: Data of consecutive patients with gastric biopsies according to the updated Sydney System observed in 2013, 2016 and 2019 resulting in IM diagnosis were retrieved. In the first period, endoscopy was performed with standard white light instruments. In the second period, preendoscopic gastric preparation was administered, and the examinations lasting at least 7 min with standard endoscopes were performed. In the third period, the latter procedure was followed, with virtual chromoendoscopy equipped instruments. The prevalence of IM in any gastric site and that of extensive IM were compared among the three periods. RESULTS: Data of 3485 patients were available. The detection of IM in at least one gastric site increased from 29.9 to 33.6% and 34.5% (95% CI, 32.1-36.8) in the first, second and third period, respectively. The difference was statistically significant between the first and last (P = 0.02; OR, 1.24; 95% CI, 1.04-1.48) period. When considering extensive IM, the detection increased from 4.28 to 6.1% and 5.44%, although the difference failed to reach statistical significance (P = 0.076). CONCLUSION: Our data showed that implementation of a quality protocol increased the probability to detect IM in the stomach, allowing us to select patients deserving stricter follow-up.
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Infecções por Helicobacter , Helicobacter pylori , Lesões Pré-Cancerosas , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/patologia , Gastroscopia/métodos , Biópsia/métodos , Lesões Pré-Cancerosas/diagnóstico , Lesões Pré-Cancerosas/patologia , Metaplasia/patologia , Mucosa Gástrica/patologiaRESUMO
BACKGROUND: 'Choosing Wisely' is an international campaign against inappropriateness in medical practices that aims to promote a rational and evidence-based use of resources. The Italian Association of Hospital Gastroenterologists and Endoscopists (AIGO) joined the Campaign in 2017 releasing five recommendations. AIMS: To identify five new recommendations for a correct, evidence-based approach to the management of gastrointestinal diseases. METHODS: All AIGO members were asked to identify practices or interventions that, even though diffuse in clinical practice, do not provide benefit for patients. The proposed items were then revised, divided by topic and ranked. After a systematic review of the literature for each item, five new recommendations were identified. RESULTS: The five recommendations are: do not request surveillance investigations for patients with pancreatic cysts who are poor surgical candidates, irrespective of cysts nature and characteristics; do not request esophagogastroduodenoscopy in patients with recent onset of upper gastrointestinal symptoms younger than 50 years, without alarm features; do not request surveillance colonoscopy for asymptomatic colonic diverticular disease without changes in symptoms; do not perform food intolerance tests except for those scientifically validated; do not prescribe proton pump inhibitors to patients with liver cirrhosis, outside of established indications. CONCLUSION: The Choosing Wisely recommendations will reduce unnecessary testing and treatments, increasing patient safety and overall healthcare quality.
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Gastroenterologistas , Gastroenterologia , Gastroenteropatias , Humanos , Gastroenteropatias/diagnóstico , Gastroenteropatias/terapia , Qualidade da Assistência à Saúde , HospitaisRESUMO
Background and study aims This longitudinal prospective study evaluated the long-term outcome of endoscopic treatment of gastrointestinal bleeding in hereditary hemorrhagic telangiectases (HHT), its safety and outcome predictors. Patients and methods Consecutive patients with HHT and either anemia disproportionate to epistaxis or overt gastrointestinal bleeding received endoscopic treatment of gastrointestinal telangiectases with argon plasma coagulation (APC). Hemoglobin levels and transfusion requirements were evaluated before and after treatment. Treatment effectiveness was classified as: 1) complete: hemoglobin level during the follow-up ≥9 g/dL; 2) complete with recurrence: hemoglobin ≥9 g/dL for at least 12 months with subsequent drop to <9 g/dL; or 3) absent: no improvement of hemoglobin level. Adverse events (AEs) were classified as mild, moderate, severe or fatal. Correlations were searched between treatment outcome and demographic/genetic characteristics, number, size and site of telangiectases, and hepatic arterio-venous malformations grade. Results Forty-seven patients with HHT were enrolled. At median follow-up of 134 months (range 20-243 months), 41 of 47 patients showed treatment response (complete or with recurrence) after one (14/47) or more (27/47) endoscopic treatments. Median hemoglobin levels were 7.0 g/dL and 11.9 g/dL at baseline and at the end of follow-up, respectively. Transfusion requirement decreased from 22.8 to 7.3 red cell unit/year. A higher baseline number of telangiectases was associated with a lower chance of response ( P =0.008). Only one severe AE (0.4%, jejunal perforation) was recorded. Conclusions Endoscopic treatment of gastrointestinal teleangiectases for gastrointestinal bleeding in patients with HHT is effective in the long term and safe.
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BACKGROUND AND AIMS: International guidelines advise improving esophagogastroduodenoscopy (EGD) quality in Western countries, where gastric cancer is still diagnosed in advanced stages. This nationwide study investigated some indicators for the quality of EGD performed in endoscopic centers in Italy. METHODS: Clinical, endoscopic, and procedural data of consecutive EGDs performed in one month in the participating centers were reviewed and collected in a specific database. Some quality indicators before and during endoscopic procedures were evaluated. RESULTS: A total of 3,219 EGDs performed by 172 endoscopists in 28 centers were reviewed. Data found that some relevant information (family history for GI cancer, smoking habit, use of proton pump inhibitors) were not collected before endoscopy in 58.5-80.7% of patients. Pre-endoscopic preparation for gastric cleaning was routinely performed in only 2 (7.1%) centers. Regarding the procedure, sedation was not performed in 17.6% of patients, and virtual chromoendoscopy was frequently (>75%) used in only one (3.6%) center. An adequate sampling of the gastric mucosa (i.e., antral and gastric body specimens) was heterogeneously performed, and it was routinely performed only by 23% of endoscopists, and in 14.3% centers. CONCLUSIONS: Our analysis showed that the quality of EGD performed in clinical practice in Italy deserves to be urgently improved in different aspects.
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Neoplasias Gastrointestinais , Neoplasias Gástricas , Humanos , Endoscopia do Sistema Digestório/métodos , Endoscopia Gastrointestinal , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/epidemiologia , ItáliaRESUMO
BACKGROUND: Little is known about brachial artery flow-mediated vasodilatation (FMD) in active and medium-term withdrawing heavy alcoholics (HA). METHODS: FMD and some parameters of cardiovascular (CV) risk were measured in 29 HA (average alcohol intake 135, range 86 to 215 g per day) at baseline and after a 9 ± 7 months withdrawal and in 35 teetotalers. RESULTS: HA showed baseline impaired maximal % FMD (8.5 ± 5.4 SD vs. 14.9 ± 7.4, <0.001 vs. teetotalers), higher systolic (SBP) and diastolic (DBP) blood pressure (+24 mm Hg, <0.001; +15 mm Hg, <0.01), uric acid (5.3 ± 1.1 vs. 4.4 ± 0.8 mg/dl, <0.05), high-sensitivity C-reactive protein (hs-CRP; 2.7 ± 2.0 vs. 1.0 ± 0.9 mg/l, <0.02), endothelin-1 (ET-1, 0.88 ± 0.36 vs. 0.37 ± 0.10 pg/ml,<0.001), asymmetric dimethylarginine (ADMA, 0.50 ± 0.21 vs. 0.41 ± 0.12 µmol/l, p < 0.001), homeostasis model assessment of insulin resistance (HOMA-IR) (2.3 ± 1.1 vs. 1.2 ± 0.4, <0.001), and urinary 8-isoprostane (U8-iso-PGF2α) (237.2 ± 172.4 vs. 168.5 ± 96.6 pg/mg creatinine, <0.05). After withdrawal, SBP fell by 15 mm Hg, DBP by 11 mm Hg (p < 0.001), and hs-CRP by 0.94 mg/l (p < 0.02), all remaining still higher than teetotalers (<0.05, 0.01, 0.05 respectively). ET-1, HOMA-IR, and U8-iso-PGF2α were unchanged (p = NS vs. baseline, <0.05 to 0.001 vs. teetotalers). Maximal % FMD rose (to 10.6 ± 6.2, p < 0.04), but it still remained impaired (<0.04 vs. teetotalers). ADMA increased further to 0.64 ± 0.15 µmol/l (<0.05 vs. baseline, <0.02 vs. teetotalers). CONCLUSIONS: HA show marked endothelial dysfunction (ED) and high BP, impaired insulin sensitivity, inflammation, increased oxidative stress, and elevated ET-1 and ADMA, which are unaffected or only partially reversed by a medium-term alcohol withdrawal. ED and related abnormalities persist in detoxified alcoholics, thus contributing to a greater CV morbidity and mortality.
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Alcoolismo/patologia , Alcoolismo/reabilitação , Doenças Cardiovasculares/patologia , Endotélio Vascular/patologia , Adulto , Idade de Início , Idoso , Alcoolismo/complicações , Arginina/análogos & derivados , Arginina/sangue , Biomarcadores/sangue , Pressão Sanguínea/efeitos dos fármacos , Pressão Sanguínea/fisiologia , Artéria Braquial/fisiologia , Intervalos de Confiança , Feminino , Frequência Cardíaca/efeitos dos fármacos , Humanos , Resistência à Insulina/fisiologia , Lipídeos/sangue , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Estresse Oxidativo/efeitos dos fármacos , Medição de Risco , Fumar/efeitos adversos , Vasodilatação/fisiologiaRESUMO
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF-ß/BMPs signaling pathway. We found 19 HHT unrelated families, coming from a Northern Italy region and sharing the ACVRL1 in-frame deletion c.289_294del (p.H97_N98). METHODS: To test the hypothesis of a founder effect, we analyzed 88 subjects from 19 families (66 variant carriers, showing clinical signs of HHT, and 22 non-carriers, unaffected) using eight microsatellite markers within 3.7 Mb around the ACVRL1 locus. After the haplotype reconstruction, age estimation of the variant was carried out. RESULTS: We observed a common disease haplotype in 16/19 families, while three families showed evidence of recombination around the ACVRL1 locus. The subsequent age estimation analyses suggested that the mutation occurred about 8 generations ago, corresponding to about 200 years ago. We also present novel in silico and modeling data supporting the variant pathogenicity: the deletion alters the protein stability and removes the unique extracellular glycosylation site. CONCLUSION: We have demonstrated, for the first time, a "founder effect" for a HHT pathogenic variant in Italy.
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Receptores de Activinas Tipo II , Telangiectasia Hemorrágica Hereditária , Receptores de Activinas Tipo II/genética , Endoglina/genética , Efeito Fundador , Heterozigoto , Humanos , Itália , Mutação , Telangiectasia Hemorrágica Hereditária/diagnósticoRESUMO
Esophagogastroduodenoscopy (EGD) plays a crucial role in the management of gastroduodenal diseases by allowing a direct and accurate evaluation of the mucosa and the execution of several operative maneuvers. Despite a constant development of new imaging tools and operative devices, the widespread use of EGD has not resulted in a significant reduction of mortality for patients affected by esophageal/gastric cancer during the last three decades in Western countries. Evidence indicates that this disheartening scenario derives from a high variability of execution of EGD which determines its quality and diagnostic yield, delaying the diagnosis of neoplastic diseases. Based on this evidence, in recent years many scientific societies have produced different position papers aimed at defining quality performance measures in EGD. Thus, the Italian Association of Gastroenterologists and Endoscopists, the Italian Society of Digestive Endoscopy and the Italian Society of Gastroenterology have produced this joint document based on the review of ASGE, ACG, BSG, ESGE and Asian Consensus EGD position papers with the aim of indicating the quality standards of EGD (pre-, intra- and post-procedure) focused on lesion detection to be adopted in the Italian context.