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Isolating Nasal Olfactory Stem Cells from Rodents or Humans
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ENT and mucopolysaccharidoses.

Pier Marco Bianchi1, Renato Gaini2, Silvano Vitale3

  • 1Surgery Department, Otorhinolaryngology Unit, Bambino Gesù Paediatric Hospital, Scientific Research Institute, P.zza S.Onofrio, 4-00165, Rome, Italy. piermarco.bianchi@opbg.net.

Italian Journal of Pediatrics
|November 17, 2018
PubMed
Summary
This summary is machine-generated.

Mucopolysaccharidoses (MPS) are inherited metabolic disorders causing GAG accumulation and multi-organ damage. Early recognition of ENT symptoms by otolaryngologists is crucial for timely MPS diagnosis and management.

Keywords:
AdenotonsillectomyAirway obstructionHearing lossMucopolysaccharidosesObstructive sleep apnoeaOtitis media with effusionTracheotomy

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidoses (MPS) are inherited metabolic disorders due to enzyme deficiencies in glycosaminoglycan (GAG) metabolism.
  • Accumulated GAGs lead to progressive multi-organ damage and premature death.
  • Ear, nose, and throat (ENT) disorders are prevalent in over 90% of MPS patients, often presenting early.

Purpose of the Study:

  • To highlight the critical role of otolaryngologists in the early identification of MPS.
  • To emphasize the association between non-specific ENT pathologies and MPS.
  • To promote a multidisciplinary approach for MPS diagnosis and management.

Main Methods:

  • Review of clinical manifestations of MPS, focusing on ENT disorders.
  • Analysis of diagnostic challenges and opportunities in otolaryngology.
  • Identification of key clinical signs and symptoms suggestive of MPS.

Main Results:

  • ENT disorders like otitis media, macroglossia, and airway obstruction are common early signs of MPS.
  • Undiagnosed MPS patients are frequently seen by otolaryngologists.
  • Specific ENT findings coupled with systemic signs warrant MPS suspicion.

Conclusions:

  • Otolaryngologists are uniquely positioned for early MPS detection.
  • Suspecting MPS in cases of recurrent ENT issues and specific systemic findings is vital.
  • Prompt diagnosis through ENT evaluation facilitates timely multidisciplinary care for MPS patients.