PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley +1 more source
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon +10 more
wiley +1 more source
Anthropometric and sociodemographic variables, but not preconception or prenatal maternal nutrition supplementation, predict neurodevelopment in offspring of the 'Women First' trial. [PDF]
Waldrop S +20 more
europepmc +1 more source
Abstract Objectives Recognizing bowel dysfunction and toilet training issues can be challenging due to conflicting information about what is normal. This study aims to provide an overview of toilet training practices and bowel habits in healthy children up to 4 years. Methods This study among 6850 parent–child pairs was part of the Generation R Study—a
Demi Huijgen +4 more
wiley +1 more source
Influences of Maternal Nutrition and Lifestyle Factors on Early Childhood Oral Health: A Systematic Review of Mechanisms and Intervention Strategies. [PDF]
Alrashdi M.
europepmc +1 more source
The utility of whole exome sequencing in diagnosing Wilson disease: A case report
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan +4 more
wiley +1 more source
Impacts of Maternal Nutrition on Sow Performance and Potential Positive Effects on Piglet Performance. [PDF]
Gormley A +4 more
europepmc +1 more source
Gut function among children treated for severe acute malnutrition: A cohort study in Uganda
Abstract Objectives Impaired gut function in children with severe acute malnutrition (SAM) is associated with morbidity. We aimed to assess changes in six biomarkers representing different domains of gut function among children with complicated SAM during nutritional rehabilitation, and to identify predictors of these changes.
Betty Lanyero +12 more
wiley +1 more source
Functional constipation in children and young adults with Prader–Willi syndrome
Abstract Objectives Prader–Willi Syndrome (PWS) is characterized by hyperphagia, endocrinopathies, and gastrointestinal abnormalities. Clinical concerns about constipation and fecal incontinence (FI) are common, but no studies to date have clear data on functional defecation disorders in children with PWS.
Melinda J. Pierce +3 more
wiley +1 more source

