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(neuronal intestinal dysplasia)
308 results
  • The role of mast cells in pediatric gastrointestinal disease. [Review]
  • AGAnn Gastroenterol 2019 Jul-Aug; 32(4):338-345
  • Ravanbakhsh 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 ulti…
  • A review of filamin A mutations and associated interstitial lung disease. [Case Reports]
  • EJEur J Pediatr 2019; 178(2):121-129
  • Sasaki 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]
  • APArch Pathol Lab Med 2019; 143(2):235-243
  • Kapur 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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