Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G.
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PMID:[Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene]. 2282 7

Otitis media with effusion (OME) is a frequent paediatric disorder. The condition is often asymptomatic, and so can easily be missed. However, OME can lead to hearing loss that impairs the child's language and behavioural development. The diagnosis is essentially clinical, and is based on otoscopy and (in some cases) tympanometry. Nasal endoscopy is only indicated in cases of unilateral OME or when obstructive adenoid hypertrophy is suspected. Otitis media with effusion is defined as the observation of middle-ear effusion at consultations three months apart. Hearing must be evaluated (using an age-appropriate audiometry technique) before and after treatment, so as not to miss another underlying cause of deafness (e.g. perception deafness). Craniofacial dysmorphism, respiratory allergy and gastro-oesophageal reflux all favour the development of OME. Although a certain number of medications (antibiotics, corticoids, antihistamines, mucokinetic agents, and nasal decongestants) can be used to treat OME, they are not reliably effective and rarely provide long-term relief. The benchmark treatment for OME is placement of tympanostomy tubes (TTs) and (in some cases) adjunct adenoidectomy. The TTs rapidly normalize hearing and effectively prevent the development of cholesteatoma in the middle ear. In contrast, TTs do not prevent progression towards tympanic atrophy or a retraction pocket. Adenoidectomy enhances the effectiveness of TTs. In children with adenoid hypertrophy, adenoidectomy is indicated before the age of 4 but can be performed later when OME is identified by nasal endoscopy. Children must be followed up until OME has disappeared completely, so that any complications are not missed.
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PMID:Otitis media with effusion in children: Pathophysiology, diagnosis, and treatment. A review. 3122 99