Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel Variant.

Inherited syndromes of congenital enteropathy are rare, with many genetic causes described. Mutations of the gene results in the syndrome of intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (IDEDNIK, formerly in the medical literature as MEDNIK). The clinicopathologic features of the enteropathy in IDEDNIK syndrome have not been fully explored.

Pitfalls of iron supplementation in parenteral nutrition admixtures for children with intestinal failure.

Background: Pediatric patients with intestinal failure are at increased risk for iron deficiency. Supplementation is not routinely included in parenteral nutrition solutions. There is currently limited research related to the safety of iron supplementation in parenteral nutrition and for intravenous forms used in patients with intestinal failure.

Bacterial overgrowth assessment and treatment among pediatric intestinal rehabilitation and nutrition support providers: An international survey of clinical practice patterns.

Background: Small bowel bacterial overgrowth (SBBO) is a common, but difficult to diagnose and treat, problem in pediatric short bowel syndrome (SBS). Lack of clinical consensus criteria and unknown sensitivity and specificity of bedside diagnosis makes research on this potential SBS disease modifier challenging. The objective of this research was to describe clinical care of SBBO among international intestinal rehabilitation and nutrition support (IR&NS) providers treating patients with SBS.

Long-Term Dietary Changes in Subjects with Glucose Galactose Malabsorption Secondary to Biallelic Mutations of SLC5A1.

Background: Glucose galactose malabsorption (GGM) is a congenital diarrheal disorder of intestinal Na+/glucose cotransport (SGLT1/SLC5A1). The required glucose and galactose-restricted diet has been well described in infancy, but long-term nutrition follow-up is limited.

Aim: To perform a comprehensive nutritional assessment on a cohort of patients with GGM to gain insights into the consumption patterns within the population.

Nutrition Deficiencies in Children With Intestinal Failure Receiving Chronic Parenteral Nutrition.

Background: Home parenteral nutrition (PN) is a lifesaving therapy for children with intestinal failure (IF). Our aims were to describe the prevalence of micronutrient deficiencies (vitamin D, zinc, copper, iron, selenium) in a diverse population of children with IF receiving PN and to identify and characterize risk factors associated with micronutrient deficiencies, including hematologic abnormalities.

Methods: Data were collected on 60 eligible patients through retrospective chart review between May 2012 and February 2015.