A New Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.

Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by hyperplastic polyps in the upper and lower gastrointestinal (GI) tract with a high risk of developing GI cancers. We have described a three-generation Italian family with all the spectrum of SMAD4 phenotype. A multigene panel test was performed on the genomic DNA of the proband by next-generation sequencing, including genes related to hereditary GI tumor syndromes.

In Elderly Anemic Patients without Endoscopic Signs of Bleeding Are Duodenal Biopsies Always Necessary to Rule Out Celiac Disease?

Iron-deficiency anemia in the elderly may be due to numerous gastrointestinal conditions. Anemia is frequent in celiac disease (CD); however, the use of routine duodenal biopsies, independently of age or serology, is debated. To determine the diagnostic yield of routine duodenal biopsies in adult and elderly patients with no bleeding anemia, a cross-sectional study analyzing 7968 gastroscopies (2017−2020) was performed; 744 were for anemia and 275 were excluded (GI bleeding or without duodenal biopsies).

Prevalence of Segmental Colitis Associated with Colonic Diverticulosis in a Prospective Cohort of Patients Who Underwent Colonoscopy in a Tertiary Center.

In patients with colonic diverticulosis, the prevalence of segmental colitis associated with diverticulosis (SCAD) is debated. The aim of this study was to assess the prevalence of SCAD in consecutive patients with diverticulosis in a single tertiary center. Over a six-month period, consecutive adult patients with colonic diverticulosis were included.

Skin Manifestations and Coeliac Disease in Paediatric Population.

Celiac disease (CD) is an immune-mediated enteropathy caused by gluten ingestion, affecting approximately 1% of the worldwide population. Extraintestinal symptoms may be present as the first signs of CD, years before the CD diagnosis is made. A great variety of extraintestinal manifestations may be associated with CD.

Gastrointestinal endoscopy can be safely performed during pandemic SARS-CoV-2 infection in Central Italy.

Objectives: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is highly contagious; gastrointestinal endoscopies are considered risky procedures for the endoscopy staff. Data on the SARS-CoV-2-exposure/infection rate of gastrointestinal endoscopy staff is scarce. This study aimed to assess the SARS-CoV-2-exposure/infection rate among gastrointestinal endoscopists/nurses performing gastrointestinal endoscopies before and after the adoption of specific prevention measures.

Isolated intestinal Ganglioneuromatosis: case report and literature review.

Background: Intestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as Neurofibromatosis 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B) and Cowden syndrome (PTEN mutation), and ganglioneuromas (GNs) may be sometimes the first sign of the disease. Isolated GNs are rare and sporadic.

Erratum: Improving assessment and management of large non-pedunculated colorectal lesions in a Western center over 10 years: lessons learned and clinical impact.

[This corrects the article DOI: 10.1055/a-1220-6261.].

Flash on gut microbiome in gestational diabetes: a pilot study.

Pregnancy induces a deep modification of women's gut microbiota composition. These changes may influence hormonal and metabolic factors, increasing insulin resistance and leading to hyperglycaemia in susceptible women. Data on 29 women in pregnancy showed insignificant reductions in the Bacteroidetes/ Firmicutes ratio in women with (n.

Enteroscopy in children and adults with inflammatory bowel disease.

Inflammatory bowel disease (IBD) includes Crohn's disease (CD), ulcerative colitis and unclassified entities. CD commonly involves the terminal ileum and colon but at the time of diagnosis it can be confined to the small bowel (SB) in about 30% of the patients, especially in the young ones. Management of isolated SB-CD can be challenging and objective evaluation of the SB mucosa is essential in differentiating CD from other enteropathies to achieve therapeutic decisions and to plan the follow-up.

Improving assessment and management of large non-pedunculated colorectal lesions in a Western center over 10 years: lessons learned and clinical impact.

Outcomes of endoscopic assessment and management of large colorectal (CR) non-pedunculated lesions (LNPLs) are still under evaluation, especially in Western settings. We analyzed the clinical impact of changes in LNPL management over the last decade in a European center. All consecutive LNPLs ≥ 20 mm endoscopically assessed (2008-2019) were retrospectively included.

Frog Skin-Derived Peptides Against Correlation between Antibacterial and Cytotoxic Activities.

is a commensal bacterium that colonizes human skin, and it is part of the normal bacterial flora. In non-risk subjects, it can be the cause of bad body smell due to the generation of volatile odorous metabolites, especially in the wet parts of the body that this bacterium often colonizes (i.e.

Current Perspectives in Atrophic Gastritis.

Purpose Of The Review: Atrophic gastritis is a complex syndrome with gastric atrophy as a common trait. Helicobacter pylori infection and autoimmunity are the two main contexts in which it develops. It is slightly symptomatic, affects various aspects of general health, and remains a predisposing factor for gastric cancer.

Faecal calprotectin and ultrasonography as non-invasive screening tools for detecting colorectal polyps in children with sporadic rectal bleeding: a prospective study.

Background: Colorectal polyps are reported in 6,1% of paediatric colonoscopies and in 12% of those performed for lower gastrointestinal bleeding. Although colonoscopy is widely used in paediatric patients, it requires bowel preparation and general anaesthesia or deep sedation, and in rare cases, it can cause complications. Non-invasive screening techniques able to predict polyps in children with isolated and sporadic rectal bleeding may play a key role in the selection of patients needing colonoscopy.

Dieulafoy lesion: two pediatric case reports.

Background: Massive gastrointestinal bleeding in children is uncommon. Dieulafoy lesion is an uncommon disease which may lead to massive and repeated upper gastrointestinal hemorrhage. We report two cases of gastric Dieulafoy lesion successfully treated with either band ligation or endoscopic hemoclipping.

Eosinophilic Esophagitis in Children: Clinical Findings and Diagnostic Approach.

Eosinophilic esophagitis (EoE) is an emerging chronic immune and antigen-mediated clinicopathologic disease. During the last 2 decades, the incidence of this condition in children has increased significantly, thanks to practitioners for creating the awareness and higher use of diagnostic endoscopy. We have analysed paediatric literature on EoE focusing on the epidemiology, pathophysiology, clinical findings and diagnostic approach.

Occurrence of Acute Oesophageal Necrosis (Black Oesophagus) in a Single Tertiary Centre.

Acute oesophageal necrosis (AON) is a rare condition characterised by the endoscopic finding of diffuse, circumferential, black mucosal pigmentation of the oesophagus, which typically stops at the gastro-oesophageal junction. This observational study aimed to assess the occurrence, clinical characteristics and outcomes of AON in a consecutive endoscopic cohort in a single tertiary university centre. A retrospective analysis of endoscopic data of upper gastrointestinal endoscopy (UGE) was carried out from 2008 to 2018.

Clinical management of endoscopically resected pT1 colorectal cancer.

 Implementation of colorectal cancer (CRC) screening programs increases endoscopic resection of polyps with early invasive CRC (pT1). Risk of lymph node metastasis often leads to additional surgery, but despite guidelines, correct management remains unclear. Our aim was to assess the factors affecting the decision-making process in endoscopically resected pT1-CRCs in an academic center.

Mucosal adhesion and anti-inflammatory effects of GG in the human colonic mucosa: A proof-of-concept study.

Aim: To investigate the adhesion and anti-inflammatory effects of GG (LGG) in the colonic mucosa of healthy and ulcerative colitis (UC) patients, both and in an organ culture model.

Methods: For the experiment, a total of 98 patients (68 UC patients and 30 normal subjects) were included. Endoscopic biopsies were collected and incubated with and without LGG or LGG-conditioned media to evaluate the mucosal adhesion and anti-inflammatory effects [reduction of tumor necrosis factor alpha (TNFα) and interleukin (IL)-17 expression] of the bacteria, and extraction of DNA and RNA for quantification by real-time (RT)-PCR occurred after the incubation.

Improving basic skills in celiac-like disease diagnosis: a case report.

Background: The diagnosis of Coeliac disease (CD) requires a combination of sign/symptoms, positivity of specific antibodies and duodenal histological evidence of villous atrophy. Duodenal villous atrophy, despite representing the CD landmark, is not specific since it is found in many gastrointestinal disorders. Giardiasis is one of the most common human intestinal protozoan infestations in industrialized countries whose histological duodenal mucosa damage could mimic that of CD.

Efficacy of Prucalopride in bowel cleansing before colonoscopy: Results of a pilot study.

Colonoscopy is a crucial diagnostic instrument for colorectal cancer screening and an adequate bowel preparation is definitely decisive for the success of the procedure. Especially in elderly patients, bowel cleansing is considered a big issue, because it is often poorly tolerated for many reasons (like inability to swallow large volume of liquids or unlikable taste); this can cause a suboptimal preparation that may lead to miss a neoplastic lesion. There is relatively little data about how to improve preparation tolerability.

Time trend occurrence of duodenal intraepithelial lymphocytosis and celiac disease in an open access endoscopic population.

Background: Duodenal intraepithelial lymphocytosis (DIL) is a histological finding characterized by the increase of intraepithelial CD3T-lymphocytes over the normal value without villous atrophy, mostly associated to coeliac disease (CD), (Hp) gastritis and autoimmune diseases.

Objective: To assess the occurrence of DIL, CD and Hp gastritis in an endoscopic population over a 13 year period.

Methods: From 2003 to 2015 we included adult patients who consecutively underwent oesophago-gastro-duodenoscopy (OGD) with duodenal biopsies assessing the overall and annual occurrence of DIL and CD and the prevalence of Hp gastritis.

Endoscopic scores for inflammatory bowel disease in the era of 'mucosal healing': Old problem, new perspectives.

The importance of the endoscopic evaluation in inflammatory bowel disease (IBD) management has been recognized for many years. However, the modalities for reporting endoscopic activity represent an ongoing challenge. To address this, several endoscopic scores have been proposed.