Case report of a familial triple: a syndrome and review of the literature

n/

Genetic susceptibilty and celiac disease: what role do HLA haplotypes play?

Celiac disease is a chronic immune-mediated enteropathy triggered by exposure to dietary gluten in genetically predisposed individuals. Many genes involved in the pathogenesis have been identified and a crucial role is known to be played by the Human Leukocyte Antigen (HLA) system. The main determinants for genetic susceptibility are HLA-DQA1 and HLA-DQB1 genes encoding for HLA-DQ2 and HLA-DQ8 molecules, carried by almost all patients affected. However, since HLA-DQ2 and HLA-DQ8 heterodimers explain almost 40% of the disease heritability, HLA typing should not be applied in diagnosis, but exclusively to clarify uncertain diagnoses, considering its negative predictive value

Short- and long-term efficacy of Endoscopic balloon dilation in Crohn's disease strictures (I.F.2,547)

AIM: To evaluate short- and long-term efficacy of endoscopic balloon dilation in a cohort of consecutive patients with symptomatic Crohn’s disease (CD)-related strictures. METHODS: Twenty-six CD patients (11 men; median age 36.8 year, range 11-65 years) with 27 symptomatic strictures underwent endoscopic balloon dilation (EBD).Both naive and post-operative strictures, of any length and diameter, with or without associated fistula were included. After a clinical and radiological assessment, EBD was performed with a Microvasive Rigiflex through the scope balloon system. The procedure was considered successful if no symptom reoccurred in the following 6 mo. The long-term clinical outcome was to avoid surgery. RESULTS: The mean follow-up time was 40.7 ± 5.7 mo (range 10-94 mo). In this period, forty-six EBD were performed with a technical success of 100%. No procedure-related complication was reported. Surgery was avoided in 92.6% of the patients during the entire follow-up. Two patients, both presenting ileocecal strictures associated with fistula, failed to respond to the treatment and underwent surgical strictures resection. Of the 24 patients who did not undergo surgery, 11 patients received 1 EBD, and 13 required further dilations over time for the treatment of relapsing strictures (7 patients underwent 2 dilations, 5 patients 3 dilations, and 1 patient 4 dilations). Overall, the EBD success rate after the first dilation was 81.5%. No difference was observed between the EBD success rate for naive (n = 12) and post-operative (n = 15) CD related strictures (P > 0.05). CONCLUSION: EBD appears to be a safe and effective procedure in the therapeutic management of CDrelated strictures of any origin and dimension in order to prevent surgery

Primary Antimicrobial Susceptibility Changes in Children with Helicobacter pylori Infection over 13 Years in Northern Italy

The eradication therapy of Helicobacter pylori (H. pylori) infection is still a challenge for gastroenterologists. One of the main causes of failure in H. pylori eradication is the antibiotic resistance mainly to clarithromycin. Culture from biopsies is maybe the most used method among the antimicrobial susceptibility techniques. In this study, we compared the antimicrobial susceptibility changes in children with H. pylori infection over 13 years and we confirmed that clarithromycin resistance has been increased (16% versus 26%) though with no statistically signficant value. Therefore, clarithromycin should not be used in empiric treatment of H. pylori eradication therapy in children, but its use should be limited only to children with known antimicrobial susceptibility. On the other hand, metronidazole resistance has decreased over this time period in statistically significant manner (56% versus 33%, p=0.014). Furthermore, ampicillin resistance has been confirmed to be very rare (3% versus 0%) in children with H. pylori infection. In conclusion, in H. pylori infection, if we do not know the antibiotic susceptibility of patients, we should recommend an eradication therapy based on the local distribution of antibiotic resistance rates trying to limit the therapeutic failures

A Role for Pathogenesis-Related Proteins in Poly-Sensitized Allergic Patients with Eosinophilic Esophagitis: Clinical and Endoscopic Features

Objective: Eosinophilic Esophagitis (EoE) is a chronic inflammatory disease of the esophagus often associated with atopy. Most EoE patients are poly-sensitized to inhalant and food allergens. Sensitization to pan-allergens is also frequent but their role in EoE is unclear. The aim of the study was to investigate the role of sensitization toward pathogenesis-related proteins (PR) in patients with EoE, and its relationship with clinical and endoscopic features. Methods: A group of poly-sensitized patients was retrospectively analyzed, and clinical, endoscopic, and histological differences were compared between patients’ sensitized and non-sensitized to PR-10 proteins. Results: Dysphagia was more frequent in patients sensitized to PR-10 compared with non-sensitized subjects (83% vs. 42%, p=0.032) while other presenting symptoms did not significantly differ between the two groups. The mean esophageal eosinophil peak was significantly higher in PR-10-sensitized patients (p=0.047). As far as endoscopic findings were concerned, no difference was found between the two groups. Conclusion: Sensitization to plant-food allergens such as PR-10 proteins seems relevant in poly-sensitized patients suffering from EoE and needs to be evaluated in order to test the result of an appropriate elimination di

Clinical approach to the patient with acute gastrointestinal bleeding

Gastrointestinal bleeding (GIB) is a very common condition at all ages, with high rates of morbidity and mortality, especially in case of acute presentation. The optimal management of acute GIB requires a timely overview of vital signs and clinical presentation to stabilize the patient if necessary and set up the most adequate diagnostic and therapeutic approach, based on the suspected etiology. Endoscopy plays a major role both in diagnosis and treatment of acute GIB, as allows the application of several hemostasis techniques during the diagnostic session, which should preferably be performed within 24 hours from the acute event. The hemostasis technique should be chosen based on type, etiology of the bleeding and the operator preference and expertise. Nevertheless, several challenging cases need the cooperation of radiology especially in the diagnostic phase, and even in the therapeutic phase for those bleedings in which medical and endoscopic techniques have failed. Imaging diagnostic techniques include mainly CT angiography, scintigraphy with labeled erythrocytes and arteriography. This last technique plays also a therapeutic role in case arterial embolization is needed. Only those patients in which the previous techniques have failed, both in diagnosis and treatment, are candidates for emergency surgery

Risk of tumor implantation in percutaneous endoscopic gastrostomy in the upper aerodigestive tumors

Percutaneous endoscopic gastrostomy (PEG) has become a mainstay in providing enteral access for patients with obstructive head, neck and esophageal tumors. Tumor cell implantation is a rare complication in patients with aerodigestive cancers, who have undergone PEG tube placement. The objective of this review is to determine the incidence and contributing risk factors leading to the implantation of metastases into the abdominal wall following PEG placement. A comprehensive review of the literature in PUBMED (2008-2018) was performed.  The literature search revealed reports of more than 50 cases of abdominal wall metastases after PEG placement. As most of these studies were case reports, the exact rate of metastasis remains unknown. Generally pharyngoesophageal location of primary cancer (100%), squamous cell histology (98%), poorly differentiated tumor cells (92%), advanced pathological stage (97%), and large primary cancer size were identified as strong risk factors for the development of stomal metastasis. Abdominal wall metastases following PEG placement are a rare but serious complication in patients with head and neck malignancy