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1.
Life (Basel) ; 13(8)2023 Aug 05.
Article in English | MEDLINE | ID: mdl-37629551

ABSTRACT

Duodenoscope-related infections are a major concern in medicine and GI endoscopy, especially in fragile patients. Disposable duodenoscopes seem to be the right tool to minimize the problem: a good choice for patients with many comorbidities or with a high risk of carrying multidrug resistant bacteria. Urgent endoscopy could also be a good setting for the use of single-use duodenoscopes, especially when the risk of the infection cannot be evaluated. Their safety and efficacy in performing ERCP has been proven in many studies. However, randomized clinical trials and comparative large studies with reusable scopes are lacking. Moreover, the present early stage of their introduction on the market does not allow a large economical evaluation for each health system. Thus, accurate economical and safety comparisons with cap-disposable duodenoscopes are needed. Moreover, the environmental impact of single-use duodenoscopes should be carefully evaluated, considering the ongoing climate change. In conclusion, definitive guidelines are needed to choose wisely the appropriate patients for ERCP with disposable duodenoscopes as the complete switch to single-use duodenoscopes seems to be difficult, to date. Many issues are still open, and they need to be carefully evaluated in further, larger studies.

2.
World J Gastrointest Endosc ; 15(3): 103-113, 2023 Mar 16.
Article in English | MEDLINE | ID: mdl-37034968

ABSTRACT

Gastric neuroendocrine neoplasms (gNENs) are a rare type of gastric neoplasm, even if their frequency is increasing according to the latest epidemiologic revisions of the main registries worldwide. They are divided into three main subtypes, with different pathogeneses, biological behaviors, and clinical characteristics. GNEN heterogeneity poses challenges, therefore these neoplasms require different management strategies. Update the knowledge on the endoscopic treatment options to manage g-NENs. This manuscript is a narrative review of the literature. In recent years, many advances have been made not only in the knowledge of both the pathogenesis and the molecular profiling of gNENs but also in the endoscopic expertise towards innovative treatment options, which proved to be less aggressive without losing the capability of being radical. The endoscopic approach is increasingly applied in the field of gastrointestinal (GI) luminal neoplasms, and this is true not only for adenocarcinomas but also for gNENs. In particular, different techniques have been described for the endoscopic removal of suspected lesions, ranging from classical polypectomy (cold or hot snare) to endoscopic mucosal resection (both with "en bloc" or piecemeal technique), endoscopic submucosal dissection, and endoscopic full-thickness resection. GNENs comprise different subtypes of neoplasms with distinct management and prognosis. New endoscopic techniques offer a wide variety of approaches for GI localized neoplasms, which demonstrated to be appropriate and effective also in the case of gNENs. Correct evaluation of size, site, morphology, and clinical context allows the choice of tailored therapy in order to guarantee a definitive treatment.

3.
Article in English | MEDLINE | ID: mdl-36767516

ABSTRACT

Gastric cancer (GC) is a relevant public health issue as its incidence and mortality rates are growing worldwide. There are recognized carcinogen agents, such as obesity, tobacco, meat, alcohol consumption and some dietary protective factors. Strategies of early diagnosis through population-based surveillance programs have been demonstrated to be effective in lowering the morbidity and mortality related to GC in some countries. Indeed, the detection of early lesions is very important in order to offer minimally invasive treatments. Endoscopic resection is the gold standard for lesions with a low risk of lymph node metastasis, whereas surgical mini-invasive approaches can be considered in early lesions when endoscopy is not curative. This review outlines the role of lifestyle and prevention strategies for GC, in order to reduce the patients' risk factors, implement the surveillance of precancerous conditions and, therefore, improve the diagnosis of early lesions. Furthermore, we summarize the available treatments for early gastric cancer.


Subject(s)
Stomach Neoplasms , Humans , Stomach Neoplasms/diagnosis , Stomach Neoplasms/prevention & control , Endoscopy, Gastrointestinal , Risk Factors , Life Style , Early Detection of Cancer
4.
World J Gastroenterol ; 28(9): 909-917, 2022 Mar 07.
Article in English | MEDLINE | ID: mdl-35317053

ABSTRACT

Elastography is a non-invasive method widely used to measure the stiffness of the tissues, and it is available in most endoscopic ultrasound machines, using either qualitative or quantitative techniques. Endoscopic ultrasound elastography is a tool that should be applied to obtain a complementary evaluation of pancreatic diseases, together with other imaging tests and clinical data. Elastography can be informative, especially when studying pancreatic masses and help the clinician in the differential diagnosis between benign or malignant lesions. However, further studies are necessary to standardize the method, increase the reproducibility and establish definitive cut-offs to distinguish between benign and malignant pancreatic masses. Moreover, even if promising, elastography still provides little information in the evaluation of benign conditions.


Subject(s)
Elasticity Imaging Techniques , Pancreatic Diseases , Pancreatic Neoplasms , Elasticity Imaging Techniques/methods , Endosonography/methods , Humans , Pancreatic Diseases/diagnostic imaging , Pancreatic Neoplasms/diagnostic imaging , Pancreatic Neoplasms/pathology , Reproducibility of Results
5.
Surg Endosc ; 36(5): 3542-3548, 2022 05.
Article in English | MEDLINE | ID: mdl-34494152

ABSTRACT

INTRODUCTION: Common bile duct stones (CBDS) can spontaneously migrate through the duodenal papilla. In this case, ERCP could be unnecessary and a significant rate of complications could be avoided. In this study, we aim at retrospectively evaluating the rate of spontaneous stone passage in patients with an imaging diagnosis of CBDS and at analysing the factors associated to spontaneous stone migration. METHODS: We conducted a retrospective multi-centre analysis of patients undergoing ERCP for CBDS in a 12-month period. 1016 patients with CBDS were analysed. In all patients CBDS was diagnosed with adequate imaging methods performed prior to ERCP. ERCPs with failed biliary cannulation were excluded. Data regarding patients' characteristics, imaging findings and ERCP procedure were analysed. RESULTS: 1016 patients with CBDS undergoing ERCP were analysed (male sex 43.3%; mean age 69.9 ± 16.5 years). Diagnosis of CBDS was obtained by EUS in 415 patients (40.8%), MR in 343 (33.8%), CT in 220 (21.7%), and US in 38 (3.7%). No stones were found at ERCP in 179 patients (17.6%), in 14 (6.2%) when ERCP was performed within 6 h from imaging study, in 114 (18.5%) between 7 h and 7 days, in 32 (24.6%) between 8 and 29 days, and in 19 (43.2%) after 30 days. The rate of unnecessary ERCP occurred significantly more frequently in patients in whom imaging methods demonstrated either sludge or ≤ 5 mm CBDS (29.9 vs. 8.3%; p < 0.001). DISCUSSION: Spontaneous migration of small CBDS is a frequent event, and ≤ 5 mm size and a delay in ERCP > 7 days represent predictive factors for it. We suggest that CBDS ≤ 5 mm should not undergo immediate removal and this fact would allow reducing the rate of unnecessary ERCP with their related complications. Prospective studies are needed to confirm these results and demonstrate the safety of a conservative management in this setting.


Subject(s)
Cholangiopancreatography, Endoscopic Retrograde , Gallstones , Aged , Aged, 80 and over , Cholangiopancreatography, Endoscopic Retrograde/adverse effects , Cholangiopancreatography, Endoscopic Retrograde/methods , Common Bile Duct , Gallstones/complications , Gallstones/diagnostic imaging , Gallstones/surgery , Humans , Male , Middle Aged , Prospective Studies , Retrospective Studies
7.
Front Immunol ; 12: 673487, 2021.
Article in English | MEDLINE | ID: mdl-33936120

ABSTRACT

DOCK8 deficiency is a combined immunodeficiency due to biallelic variants in dedicator of cytokinesis 8 (DOCK8) gene. The disease has a wide clinical spectrum encompassing recurrent infections (candidiasis, viral and bacterial infections), virally driven malignancies and immune dysregulatory features, including autoimmune (cytopenia and vasculitis) as well as allergic disorders (eczema, asthma, and food allergy). Hypomorphic function and somatic reversion of DOCK8 has been reported to result in incomplete phenotype without IgE overproduction. Here we describe a case of DOCK8 deficiency in a 8-year-old Caucasian girl. The patient's disease was initially classified as autoimmune thrombocytopenia, which then evolved toward a combined immunodeficiency phenotype with recurrent infections, persistent EBV infection and lymphoproliferation. Two novel variants (one deletion and one premature stop codon) were characterized, resulting in markedly reduced, but not absent, DOCK8 expression. Somatic reversion of the DOCK8 deletion was identified in T cells. Hypomorphic function and somatic reversion were associated with restricted T cell repertoire, decreased STAT5 phosphorylation and impaired immune synapse functioning in T cells. Although the patient presented with incomplete phenotype (absence of markedly increase IgE and eosinophil count), sclerosing cholangitis was incidentally detected, thus indicating that hypomorphic function and somatic reversion of DOCK8 may delay disease progression but do not necessarily prevent from severe complications.


Subject(s)
Cholangitis, Sclerosing/genetics , Guanine Nucleotide Exchange Factors/genetics , Primary Immunodeficiency Diseases/genetics , Child , Female , Humans , Mutation
8.
Endosc Int Open ; 9(4): E629-E634, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33880397

ABSTRACT

Background and study aims COVID-19 has dramatically impacted endoscopy practice because upper endoscopy procedures can be aerosol-generating. Most elective procedures have been rescheduled. Endoscopic retrograde cholangiopancreatography (ERCP) is frequently performed in emergency or urgent settings in which rescheduling is not possible. We evaluated the impact of the COVID-19 pandemic on ERCP in Italy during the SARS-CoV-2 lockdown, in areas with high incidence of COVID-19. Patients and methods We performed a retrospective survey of centers performing ERCP in high COVID-19 prevalence areas in Italy to collect information regarding clinical data from patients undergoing ERCP, staff, case-volume and organization of endoscopy units from March 8, 2020 to April 30, 2020. Results We collected data from 31 centers and 804 patients. All centers adopted a triage and/or screening protocol for SARS-CoV-2 and performed follow-up of patients 2 weeks after the procedure. ERCP case-volume was reduced by 44.1 % compared to the respective 2019 timeframe. Of the 804 patients undergoing ERCP, 22 (2.7 %) were positive for COVID-19. Adverse events occurred at a similar rate to previously published data. Of the patients, endoscopists, and nurses, 1.6 %, 11.7 %, and 4.9 %, respectively, tested positive for SARS-CoV-2 at follow up. Only 38.7 % of centers had access to a negative-pressure room for ERCP. Conclusion The case-volume reduction for ERCP during lockdown was lower than for other gastrointestinal endoscopy procedures. No definitive conclusions can be drawn about the percentage of SARS-CoV-2-positive patients and healthcare workers observed after ERCP. Appropriate triage and screening of patients and adherence to society recommendations are paramount.

9.
J Clin Gastroenterol ; 55(10): e87-e91, 2021.
Article in English | MEDLINE | ID: mdl-33060438

ABSTRACT

GOALS: The present survey from the Italian Society of Digestive Endoscopy (SIED-Società Italiana di Endoscopia Digestiva) was aimed at reporting infection control practice and outcomes at Digestive Endoscopy Units in a high-incidence area. BACKGROUND: Lombardy was the Italian region with the highest coronavirus disease-2019 (COVID-19) prevalence, at the end of March 2020 accounting for 20% of all worldwide deaths. Joint Gastro-Intestinal societies released recommendations for Endoscopy Units to reduce the risk of the contagion. However, there are few data from high-prevalence areas on adherence to these recommendations and on their efficacy. METHODS: A survey was designed by the Lombardy section of SIED to analyze (a) changes in activity and organization, (b) adherence to recommendations, (c) rate of health care professionals' (HCP) infection during the COVID-19 outbreak. RESULTS: In total, 35/61 invited centers (57.4%) participated; most modified activities were according to recommendations and had filtering face piece 2/filtering face piece 3 and water-repellent gowns available, but few had negative-pressure rooms or provided telephonic follow-up; 15% of HCPs called in sick and 6% had confirmed COVID-19. There was a trend (P=0.07) toward different confirmed COVID-19 rates among endoscopists (7.9%), nurses (6.6%), intermediate-care technicians (3.4%), and administrative personnel (2.2%). There was no correlation between the rate of sick HCPs and COVID-19 incidence in the provinces and personal protective equipment availability and use, whereas an inverse correlation with hospital volume was found. CONCLUSIONS: Adherence to recommendations was rather good, though a minority were able to follow all recommendations. Confirmed COVID-19 seemed higher among endoscopists and nurses, suggesting that activities in the endoscopy rooms are at considerable viral spread risk.


Subject(s)
COVID-19 , Endoscopy, Gastrointestinal , Humans , Infection Control , Italy/epidemiology , SARS-CoV-2
10.
Dig Liver Dis ; 53(7): 846-851, 2021 07.
Article in English | MEDLINE | ID: mdl-33129712

ABSTRACT

BACKGROUND AND AIMS: Microscopic colitis (MC) is the most frequent condition in subjects undergoing ileocolonoscopy for chronic non-bloody diarrhea (CNBD) in Western countries. Emerging evidence has shown a negative association between MC and colorectal cancer. Within this prospective multi-center study we have evaluated the risk of colorectal neoplasia in MC and non-MC patients with CNBD receiving ileocolonoscopy with high-definition plus virtual chromoendoscopic imaging and histopathological assessment. METHODS: Patients with CNBD of unknown origin were prospectively enrolled in 5 referral centers in Northern Italy for ileocolonoscopy with high-definition and digital/optical chromoendoscopy plus multiple biopsies in each segment. The prevalence of colorectal neoplasia (cancer, adenoma, serrated lesion) in MC was compared to that observed in a control group including CNBD patients negative for MC, inflammatory bowel disease or eosinophilic colitis. RESULTS: From 2014 and 2017, 546 consecutive CNBD patients were recruited. Among the 492 patients (mean age 53±18 years) fulfilling the inclusion criteria against the exclusion critieria, MC was the predominant diagnosis at histopathological assessment (8.7%: N=43, 28 CC, 15 LC). The regression model adjusted for age and gender showed a significant negative association between the diagnosis of CM and colorectal neoplasia (OR=0.39; 95% CI 0.22-0.67, p <0.001) with a 60% decreased risk of adenomatous and neoplastic serrated polyps as compared to the control group (n=412). CONCLUSION: This multi-center study confirms MC as a low-risk condition for colorectal neoplasia. No surveillance colonoscopy program is to be performed for MC diagnosis.


Subject(s)
Colitis, Microscopic/complications , Colonoscopy/statistics & numerical data , Colorectal Neoplasms/epidemiology , Diarrhea/complications , Early Detection of Cancer/statistics & numerical data , Aged , Biopsy , Chronic Disease , Colonoscopy/methods , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/etiology , Early Detection of Cancer/methods , Female , Humans , Italy , Male , Middle Aged , Prevalence , Prospective Studies , Regression Analysis
11.
Clin Res Hepatol Gastroenterol ; 45(3): 101521, 2021 May.
Article in English | MEDLINE | ID: mdl-32888875

ABSTRACT

BACKGROUND: COVID-19 patients have an increased susceptibility to develop thrombotic complications, thus thromboprophylaxis is warranted which may increase risk of upper gastrointestinal bleeding (UGIB). Our aim was to evaluate incidence of UGIB and use of upper GI endoscopy in COVID-19 inpatients. METHODS: The medical and endoscopic management of UGIB in non-ICU COVID-19 patients has been retrospectively evaluated. Glasgow Blatchford score was calculated at onset of signs of GI bleeding. Timing between onset of signs of GI bleeding and execution, if performed, of upper GI endoscopy was evaluated. Endoscopic characteristics and outcome of patients were evaluated overall or according to the execution or not of an upper GI endoscopy before and after 24h. RESULTS: Out of 4871 COVID-19 positive patients, 23 presented signs of UGIB and were included in the study (incidence 0.47%). The majority (78%) were on anticoagulant therapy or thromboprophylaxis. In 11 patients (48%) upper GI endoscopy was performed within 24h, whereas it was not performed in 5. Peptic ulcer was the most common finding (8/18). Mortality rate was 21.7% for worsening of COVID-19 infection. Mortality and rebleeding were not different between patients having upper GI endoscopy before or after 24h/not performed. Glasgow Blatchford score was similar between the two groups (13;12-16 vs 12;9-15). CONCLUSION: Upper GI bleeding complicated hospital stay in almost 0.5% of COVID-19 patients and peptic ulcer disease is the most common finding. Conservative management could be an option in patients that are at high risk of respiratory complications.


Subject(s)
Anticoagulants/adverse effects , COVID-19/complications , Endoscopy, Gastrointestinal , Gastrointestinal Hemorrhage/chemically induced , Gastrointestinal Hemorrhage/epidemiology , Upper Gastrointestinal Tract , Venous Thromboembolism/prevention & control , Aged , Aged, 80 and over , Anticoagulants/therapeutic use , Female , Gastrointestinal Hemorrhage/diagnosis , Humans , Incidence , Italy/epidemiology , Male , Middle Aged , Retrospective Studies , Venous Thromboembolism/etiology
13.
Clin Gastroenterol Hepatol ; 18(10): 2375-2377, 2020 09.
Article in English | MEDLINE | ID: mdl-32480008

ABSTRACT

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.


Subject(s)
Betacoronavirus , Coronavirus Infections/diagnosis , Digestive System Diseases/diagnosis , Endoscopy, Gastrointestinal/methods , Pneumonia, Viral/diagnosis , Aged , COVID-19 , Coronavirus Infections/complications , Coronavirus Infections/epidemiology , Digestive System Diseases/etiology , Female , Humans , Italy/epidemiology , Male , Pandemics , Pneumonia, Viral/complications , Pneumonia, Viral/epidemiology , Retrospective Studies , SARS-CoV-2
14.
Endoscopy ; 52(9): 773-779, 2020 09.
Article in English | MEDLINE | ID: mdl-32316041

ABSTRACT

BACKGROUND: Acute gastrointestinal bleeding (AGIB) results in significant morbidity and mortality. Topical hemostatic products have been developed for endoscopic use to help in the management of difficult bleeding. Our aim was to demonstrate the ease of use, safety, and efficacy of PuraStat, a novel hemostat, to control AGIB. METHODS: We describe 77 patients (41 men) who were treated for acute upper and lower AGIB in a 2-year period. In 50 patients, bleeding occurred as a complication of a previous endoscopic procedure, predominantly endoscopic mucosal resection (EMR) and endoscopic retrograde cholangiopancreatography (ERCP); however, in the other 27 patients, it derived from peptic ulcers, angiodysplasia, cancers, and surgical anastomoses. Bleeding was spurting in 13 of the 77 patients and oozing in 64. PuraStat was used after the failure of at least two conventional hemostatic methods. RESULTS: A mean of 2.6 conventional hemostatic methods had been attempted prior to the application of PuraStat. PuraStat achieved successful hemostasis in 90.9 % of patients. In 41 patients, once hemostasis was obtained with PuraStat, endoscopists further stabilized hemostasis by using at least one additional method. Recurrence of bleeding was observed in eight patients (10.4 %). In 16 patients with intraprocedural bleeding, it was possible to complete the procedures (14 EMR, 2 ERCP) after PuraStat hemostasis. No adverse events related to PuraStat were recorded. CONCLUSIONS: PuraStat is feasible, safe, and effective in controlling different types of gastrointestinal hemorrhage after failure of conventional hemostatic methods. Its application also does not hinder continuing endotherapy.


Subject(s)
Hemostasis, Endoscopic , Hemostatics , Gastrointestinal Hemorrhage/etiology , Gastrointestinal Hemorrhage/therapy , Hemostasis , Hemostasis, Surgical , Humans , Male , Peptic Ulcer Hemorrhage/therapy , Peptides , Treatment Outcome
16.
Int J Colorectal Dis ; 35(4): 633-640, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32006138

ABSTRACT

PURPOSE: Whether deferring surgery after endoscopic self-expandable metal stent (SEMS) placement for neoplastic stricture, and operating patients in a quasi-elective situation, may result in similar oncologic outcomes to elective operations is unclear. This study aimed to evaluate the disease-free survival (DFS) rates of patients who underwent an interval colon resection after SEMS placement or an elective operation with comparable cancer stages. METHODS: From a prospective dataset, we retrospectively selected patients with the following characteristics: (1) left-sided colon cancer and (2) cancer stage I to III. Exclusion criteria were as follows: (1) palliative surgery and (2) emergency operation. Then we stratified patients into two groups: (A) full-elective left colon resection and (B) quasi-elective left colon resection, defined as surgery performed after SEMS placement for obstructive colon cancer. DFS function was studied by the Kaplan-Meier method. RESULTS: After 1:2 matching based on cancer stage, 106 patients of the group A were compared with 53 patients of group B. In each group, there were 9.4% of stage I, 39.4% of stage II, and 50.9% of stage III patients. The rate of technical failure in SEMS placement was 3.8%. After a mean follow-up of 54 months, 16 (15.1%) patients in the full-elective groups and 10 (18.9%) in the quasi-elective group experience cancer recurrence (log rank = 0.588). DFS curve did not reach the median value. CONCLUSIONS: SEMS placement with interval colon resection for obstructive neoplastic strictures seems to provide similar long-term oncologic outcomes to operations performed in an elective setting when a low rate of technical failure is achieved.


Subject(s)
Colectomy , Colon/surgery , Colonic Neoplasms/surgery , Colonoscopy , Elective Surgical Procedures , Stents , Aged , Disease-Free Survival , Female , Humans , Male , Middle Aged , Treatment Outcome
17.
BMC Gastroenterol ; 18(1): 38, 2018 Mar 14.
Article in English | MEDLINE | ID: mdl-29540171

ABSTRACT

BACKGROUND: The incidence of biliary tract pathology is growing with an age-related trend, and progresses as the population ages. Endoscopic Retrograde Cholangiopancreatography (ERCP) represents the gold standard for treatment in these cases, but evidence about its safety in the elderly is still debated. METHODS: We retrospectively analyzed the clinical records of all patients aged ≥65 undergoing ERCP between July 2013 and July 2015. Of 387 ERCP cases, 363 (~ 94%) were completed entirely. The mean age of the study population (n = 363) was 79.9 years old (range 70-95), with 190 subjects aged 70-79 and 173 older than 80. We recorded demographics, Charlson Comorbidity index (CCI), American Society of Anesthesiologists (ASA) physical status classification score, indication for the use of the ERCP procedure, and clinical outcomes. Then, we tested all variables to identify the potential risk factors for complications associated with the procedure. RESULTS: The older group (those ≥80 years old) showed significantly more patients with ASA Classes III-IV than the younger one (those ≤79 years old). Interestingly, the CCI was higher in the younger group (p = 0.009). The overall complication rate was 17.3% without inter-group differences. Older age, sex, CCI and intra-ERCP procedures were not related to a higher risk of complications, and the multivariate regression did not identify any of the considered variables to be an independent risk factor for complications. CONCLUSION: ERCP appears as safe in the patients aged 80 years and older, as it is in those aged 70-79 years old in our study, however, a selection bias may affect these findings. A study including a comprehensive geriatric assessment will contribute to shedding light on this issue.


Subject(s)
Biliary Tract Diseases/diagnostic imaging , Cholangiopancreatography, Endoscopic Retrograde/methods , Age Factors , Aged , Aged, 80 and over , Cholangiopancreatography, Endoscopic Retrograde/adverse effects , Female , Humans , Male , Retrospective Studies
18.
Endosc Int Open ; 5(3): E151-E156, 2017 Mar.
Article in English | MEDLINE | ID: mdl-28435855

ABSTRACT

We describe our experience with a new over-the-scope clip (OTSC) system (Padlock Clip?) in the treatment of 14 patients. Eight of the 14 patients were treated for closure of gastrointestinal fistulas (n?=?4), iatrogenic gastrointestinal perforations (n?=?2), or hemostasis of post-polypectomy bleeding (n?=?2). The site of clipping was the lower gastrointestinal tract in five patients and the upper gastrointestinal tract in three patients. The clip was successfully delivered in seven out of the eight patients and clinical success was achieved in all patients. Endoscopic full thickness resection (EFTR) was performed to treat six patients: four with recurrent adenoma (n?=?4), one with ulcerated nodules at ileorectal anastomosis, and one with a neuro-endocrine tumor of the rectum. A complete intestinal wall resection was achieved in three of the six patients (50?%) and an R0 resection in five of the six patients (83.3?%). No complications related to the procedure and no recurrence at endoscopic follow-up were observed in any patient. The novel Padlock Clip seems to be an effective and safe tool to treat gastrointestinal fistulas, perforations or post-polypectomy bleeding, and to perform EFTR.

20.
Am J Med Genet C Semin Med Genet ; 172(2): 206-13, 2016 06.
Article in English | MEDLINE | ID: mdl-27164219

ABSTRACT

Cornelia de Lange syndrome (CdLS) is a rare genetic condition related to mutation of various cohesion complex related genes. Its natural history is quite well characterized as regard pediatric age. Relatively little information is available regarding the evolution of the disease in young-adult age. In medical literature, only one specific study has been published on this topic. We report on our experience on 73 Italian CdLS patients (40 males and 33 females) with and age range from 15 to 49 years. Our results confirm the previous study indicating that gastroesophageal reflux disease (GERD) is the main medical problem of these patients in childhood and young-adult age. Other medical features that should be considered in the medical follow-up are tendency to overweight/frank obesity, constipation, discrepancy of limbs' length, epilepsy, hearing, and visual problems. Behavioral problems are particularly frequent as well. For this reason, every source of hidden pain should be actively searched for in evaluating a patient showing such a disorder. Finally, recommendations for medical follow-up in adult age are discussed. © 2016 Wiley Periodicals, Inc.


Subject(s)
De Lange Syndrome/complications , De Lange Syndrome/pathology , Adolescent , Adult , Epilepsy , Female , Gastroesophageal Reflux , Hearing Disorders , Humans , Italy/epidemiology , Limb Deformities, Congenital , Male , Mental Disorders , Middle Aged , Obesity , Vision Disorders , Young Adult
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