Novel homozygous nonsense mutation in glucagon-like peptide-2 receptor gene resulting in severe human illness.

Glucagon-like peptide-2 (GLP2) acts on the GLP2 receptor (GLP2R) and plays a role in intestinal growth and adaptation. The endogenous actions of GLP2R do not have an established association with human disease, although mouse-knockout models in a stressed state show enhanced susceptibility to small bowel injury, increased morbidity, mortality, and abnormal host-bacterial interactions. We report an 11-month-old female with multiple intensive care unit admissions for severe metabolic acidosis due to profuse nonbloody diarrhea in the context of various infections.

Fecal microbiota transplantation for the treatment of recurrent Clostridioides difficile (Clostridium difficile).

Background: Clostridioides difficile (formerly known as Clostridium difficile) is a bacterium that can cause potentially life-threatening diarrheal illness in individuals with an unhealthy mixture of gut bacteria, known as dysbiosis, and can cause recurrent infections in nearly a third of infected individuals. The traditional treatment of recurrent C difficile infection (rCDI) includes antibiotics, which may further exacerbate dysbiosis. There is growing interest in correcting the underlying dysbiosis in rCDI using of fecal microbiota transplantation (FMT); and there is a need to establish the benefits and harms of FMT for the treatment of rCDI based on data from randomized controlled trials.

Fecal transplantation for treatment of inflammatory bowel disease.

Background: Inflammatory bowel disease (IBD) is a chronic, relapsing disease of the gastrointestinal (GI) tract that is thought to be associated with a complex interplay between the immune system, the GI tract lining, the environment, and the gut microbiome, leading to an abnormal inflammatory response in genetically susceptible individuals. An altered composition of the gut's native microbiota, known as dysbiosis, may have a major role in the pathogenesis of ulcerative colitis (UC) and Crohn disease (CD), two subtypes of IBD. There is growing interest in the correction of this underlying dysbiosis using fecal microbiota transplantation (FMT).

Case Report: Acute Hepatitis E in a Pediatric Traveler Presenting with Features of Autoimmune Hepatitis: A Diagnostic and Therapeutic Challenge.

Hepatitis E virus (HEV) is globally the most common cause of acute viral hepatitis. In industrialized countries, HEV infection can be seen in travelers returning from hyperendemic countries or in individuals at risk for autochthonous infection due to zoonotic exposure. Hepatitis E virus infection is often unrecognized and at times misdiagnosed because of nonspecific findings that can overlap with other causes of hepatitis, including autoimmune hepatitis (AIH).