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(neuronal intestinal dysplasia)
309 results
  • Is There a Need for Bowel Management after Surgery for Isolated Intestinal Malrotation in Children? [Journal Article]
    Pediatr Gastroenterol Hepatol Nutr 2019; 22(5):447-452Salö M
  • CONCLUSIONS: Many children undergoing Ladd's procedure require bowel management even at long-term follow-up, probably secondary to constipation. It is important to thoroughly evaluate bowel function at the time of follow-up to verify or exclude constipation, and if treatment of constipation is unsuccessful, these children require evaluation for dysmotility disorders and/or intestinal neuronal dysplasia.
  • The role of mast cells in pediatric gastrointestinal disease. [Review]
    Ann Gastroenterol 2019 Jul-Aug; 32(4):338-345Ravanbakhsh N, Kesavan A
  • Mast cells are granulocytes derived from CD34+ pluripotent progenitor cells that demonstrate plasticity in their development, leaving the bone marrow and differentiating in the tissue where they ultimately reside. They are best known for their role in the allergic response, but also play a prominent immunoregulatory role in other processes, including immune tolerance, the innate immune response, …
  • A review of filamin A mutations and associated interstitial lung disease. [Case Reports]
    Eur J Pediatr 2019; 178(2):121-129Sasaki E, Byrne AT, … Reardon W
  • CONCLUSIONS: From the emerging data, we suggest that while reviewing complex cases with a sustained oxygen requirement against a clincial background of cardiac concerns or intestinal obstruction to have a high index of suspicion for FLNA related pathology and to instigate early MRI brain scan and FLNA mutation analysis. What is Known: • FLNA gene on Xq28 encodes the filamin A protein and mutation therein is associated with variable phenotypes depending on its nature of mutation. • Loss-of-function mutation of filamin A is associated with X-linked inherited form of periventricular nodular heterotopia with or without epilepsy with most individuals affected being female. There is a recently recognised associated respiratory phenotype. What is New: • The respiratory phenotype in the form of childhood interstitial lung disease is a recently recognised clinical consequence of loss-of-function FLNA mutation. • Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.
  • Intestinal Neuronal Dysplasia Type B: An Updated Review of a Problematic Diagnosis. [Journal Article]
    Arch Pathol Lab Med 2019; 143(2):235-243Kapur RP, Reyes-Mugica M
  • CONCLUSIONS: Inconsistencies in diagnostic criteria and methods used to define IND B justifiably encumber the universal acceptance of IND B as a neuropathologic etiology for intestinal dysmotility. IND B will remain a controversial diagnosis until rigorous, well-controlled scientific studies are conducted to establish reproducible and reliable diagnostic criteria that reliably translate from one laboratory to another.
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