Best Practice & Research. Clinical Gastroenterology

Hirschsprung disease (HSCR) and Paediatric Intestinal Pseudo-obstruction (PIPO) comprise two of the most recognized and severe disorders of gastrointestinal (GI) motility. HSCR is a developmental disorder of the enteric nervous system invariably affecting the large intestine, whereas the majority of PIPO conditions represent congenital disorders of one or more components of the neuromusculature and more diffusely affect the GI tract. Histopathology is deemed the gold standard for the diagnosis of HSCR and, arguably, of PIPO, but, other diagnostic modalities such as manometric and genetic studies have seen recent advances that may increase their utility...

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Hereditary pancreatitis (HP) encompasses two distinct disease groups: the first manifests as congenital exocrine pancreatic insufficiency (EPI), and the second includes hereditary forms of pancreatitis. EPI represents the ultimate expression of gland function loss. Cystic fibrosis is by far the most frequent aetiology of early-onset EPI; genetics and a growing understanding of the disease mechanisms have paved the way for innovative and personalized treatment approaches. Efforts are ongoing to further decipher the pathophysiology and explore new therapies for other causes of EPI...

Endoscopic ultrasound (EUS) was born from the combination of a high-frequency ultrasound probe with an endoscope to assess in detail the walls of the upper and lower gastrointestinal tract and surrounding organs and structures. The subsequent possibility of EUS-guided tissue acquisition has rapidly established the irreplaceable role of EUS in the management of a wide range of benign and malignant gastrointestinal diseases. The actual diagnostic armamentarium involving fine-Doppler, elastography, and contrast enhancement has significantly improved its diagnostic yield, which could be even more refined by newer ways of interrogating data and images, such as artificial intelligence...

The role of endoscopic ultrasound in the diagnosis and management of chronic liver disease is rapidly increasing. It forms one of the major backbones of endo-hepatology and brings us a step closer to personalized medicine. This review will focus on the particular use of EUS in the diagnosis and management of cirrhotic portal hypertension and potential complications hereof, such as ascites and gastrooesophageal varices. More specifically, EUS-guided Porto-systemic Pressure Gradient (EUS-PPG) measurement, EUS-guided coil and glue embolization of gastric varices, EUS-guided paracentesis and EUS-guided intrahepatic portosystemic shunt creation (IPSS) will be discussed in-depth with regard to clinical status, available data and technical considerations...

EUS-guided treatments for focal tumor lesions has been developed since 20 years using at onset of the technique mainly local and guided alcohol injection [1-4]. Pancreatic tumors are the most assessed targeted lesions for EUS treatment because of their accessibility and because EUS management could be a safe alternative to surgery. More and more pancreatic tumors are discovered mainly fortuitously due to the advances in conventional imaging (abdominal ultrasound, CT, MRI) resulting in the question of surgical management of an asymptomatic pancreatic lesion ("incidentaloma") [5-8]...

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Endoscopic drainage requires transpapillary access to the pancreatic duct during ERCP. When ERCP failed, EUS-guided pancreatico-gastro or bulbostomy and/or rendez-vous technique offers an alternative to surgery. Although data has demonstrated that the procedure can be safe and effective, EUS-guided PD drainage remains one of the most technically challenging therapeutic EUS interventions, as evidenced by the multiple considerations on device selection and the risk of severe complications.

With the introduction of EUS, endoscopy was no longer limited to luminal indications. However, the method was unable to distinguish malignant from benign lesions. Consequently, needles designed for tissue acquisition under EUS-guidance was designed. Initially, the needles were designed for fine needle aspiration (FNA); nevertheless, with increased requirement for the precured tissue in terms of quality and quantity, newly design needles aimed at obtaining tissue cores for histological assessment were developed...

Patients with pancreas cancer must deal frequently with intractable and refractory pain. Endoscopic ultrasound guided-celiac plexus neurolysis (EUS-CPN) has been the most studied and used therapeutic technique aimed to destroy the pain fibres that allow the pancreas to communicate with the central nervous system. A neurolytic agent, most commonly ethanol, is optimally spread around the celiac axis in order to reduce pain and mitigate narcotic requirements. This can be performed early to prevent the spiral of pain and medication use, or more historically as salvage therapy...

EUS-guided therapeutic procedures have emerged in the recent years as a minimally invasive option for the management of complex hepatobiliary disorders. Gastrointestinal surgeries, e.g., pancreaticoduodenectomy, Roux-en-Y Gastric Bypass, Roux-en-Y hepaticojejunostomy, and partial gastrectomy with different reconstructions are commonly performed for a wide range of indications that include tumour resections and weight loss. Conventional endoscopic procedures are challenging in those patients due to inaccessible or unreachable ampulla...

Endoscopic Retrograde Cholangiopancreatography (ERCP), even in expert hands, may fail in 5-10% of cases, especially in cases of papillary infiltration, malignant gastric outlet obstruction, or surgically altered anatomy. Percutaneous transhepatic biliary drainage (PTBD) has represented the traditional rescue therapy, despite associated with high rate of adverse events, need for re-interventions and an inferior quality of life. The evolution of Endoscopic Ultrasound (EUS) from a diagnostic to a therapeutic tool offers an effective and safe alternative for internal biliary drainage (BD) into the stomach or the duodenum...

Endoscopic ultrasound (EUS) is an essential technique for the management of several diseases. Over the years, new technologies have been developed because to improve and overcome certain limitations related to EUS guided tissue acquisition. Among these new methods, EUS guided elastography and contrast enhanced EUS has arisen as the most widely recognized and available. We will review in this manuscript the different techniques of elastography and contrast enhancement. Nowadays, there are well establish indications for advance imaging, mainly for supporting the management of pancreatic diseases (diagnosis of chronic pancreatitis and differential diagnosis of solid and cystic pancreatic tumors) and characterization of lymph nodes...

Fluid collections after abdominal surgeries, particularly pancreatic surgeries, are associated with high morbidity and mortality. Up until recently, percutaneous drainage was the first line therapy, but not without disadvantages, including high maintenance, risk of infection and chronic fistulas, electrolyte losses, and impact on quality of life. Endoscopic ultrasound (EUS)-guided drainage of post-surgical fluid collections (PSFCs) is safe and effective, carrying similar success, adverse event (AE), and recurrence rates as percutaneous drainage...

Endoscopic ultrasound-guided gallbladder drainage (EUS-GBD) is increasingly utilised for patients with acute cholecystitis who are high-risk candidates for surgery. The technique to perform EUS-GBD has evolved and matured over the last two decades since EUS-GBD was first described in 2007 using a nasobiliary catheter. Compared to percutaneous gallbladder drainage (PT-GBD), EUS-GBD offers benefits of shorter hospitalisation stay and lesser procedural pain and need for reintervention. The purpose of this review is to provide an updated review of the equipment and techniques available for EUS-GBD, outcomes of the procedure and how it compares against endoscopic transpapillary drainage (ET-GBD), PT-GBD and laparoscopic cholecystectomy...

Juvenile polyposis represents an heterogeneous disease as different genetic dominant backgrounds have been evidenced leading to different clinical presentations. It is associated in some patients with a different syndrome, Hereditary Hemorragic Telangiectasia, justifying a complementary and different management. Recent international recommendations help in managing this very rare disease, and this management should probably be restricted to expert centers able to take care of the multiple manifestations and risks of these patients and families...

The introduction of average-risk colorectal cancer (CRC) screening programs means that many subjects with family history of CRC and without well-described inherited syndromes can benefit from these public health policies. Therefore, the definition of which individuals should be named under the umbrella of the term "familial CRC" should be reconsidered to include only those who are outside of the protection of population-based screening and need to be moved towards a more intensive surveillance strategy. Two subgroups have been reported as having a high enough CRC risk to be included within the term "familial risk of CRC": individuals who have ≥1 first degree relative (FDR) with CRC diagnosed at age <50 years, and those who have ≥2 FDRs with CRC...

Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are rare inherited polyposis syndromes with a high colorectal cancer (CRC) risk. Therefore, frequent endoscopic surveillance including polypectomy of relevant premalignant lesions from a young age is warranted in patients. In FAP and less often in MAP, prophylactic colectomy is indicated followed by lifelong endoscopic surveillance of the retained rectum after (sub)total colectomy and ileal pouch after proctocolectomy to prevent CRC. No consensus is reached on the right type and timing of colectomy...

The PTEN hamartoma tumor syndrome (PHTS) is a heterogeneous set of multisystem disorders caused by germline pathogenic variants in the PTEN tumor suppressor gene. Manifestations include developmental anomalies and proliferative lesions. Evidence of involvement of the GI tract has accrued over time, leading to the incorporation of GI manifestations (multiple hamartomas, glycogenic acanthosis and colorectal cancer) into the diagnostic criteria. Polyps of the upper and lower GI tract are found in most adult patients and in a significant fraction of children...

Lynch syndrome is the most common inherited cause of colorectal (lifetime risk up to 70%) and endometrial cancer. The diagnosis of Lynch syndrome facilitates preventive measures aimed at reducing the incidence and mortality of cancer. Colonoscopic surveillance for colorectal cancer, aspirin, and prophylactic hysterectomy and bilateral salpo-oopherectomy for endometrial and/or ovarian cancer have demonstrated to effectively reduce cancer mortality in this population. However, the lifetime risk of each cancer in people with Lynch syndrome is gene-specific and may be modified by environmental factors...