Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Forestier's disease now called DISH (diffuse idiopathic skeletal hyperostosis) is a non inflammatory enthesopathy ossifying the anterolateral spine and sparing the disc and joint space in elderly men, mostly at thoracic levels. Radiology performed for minor trauma or to explore a stiff neck provides the diagnosis. The main differential diagnosis is ankylosing spondylitis presenting an inflammatory profile as well as previously existing alterations of the sacroiliac joint. Retinoic acid treatment or ossification of the posterior longitudinal ligament should also be discussed. Dysphagia is the most frequent symptom, but neurological signs are rarely observed. We report a case observed at the cervical level. Anterior decompression and cage-fusion was indicated. Ongoing hyperostosis was also documented. Surgery in DISH is mainly indicated for dysphagia and rarely after cervical trauma. Of note are associated lesions such as OPLL (ossification of the posterior longitudinal ligament) or synovial cysts responsible for the exceptional and severe myelopathy presentation. The neurosurgical community should become better aware of Forestier's disease.
 ...
PMID:[Surgical management of cervical radiculopathy in Forestier's disease. Case report and review]. 1585 61

We assessed feeding-related developmental anomalies in the LgDel mouse model of chromosome 22q11 deletion syndrome (22q11DS), a common developmental disorder that frequently includes perinatal dysphagia--debilitating feeding, swallowing and nutrition difficulties from birth onward--within its phenotypic spectrum. LgDel pups gain significantly less weight during the first postnatal weeks, and have several signs of respiratory infections due to food aspiration. Most 22q11 genes are expressed in anlagen of craniofacial and brainstem regions critical for feeding and swallowing, and diminished expression in LgDel embryos apparently compromises development of these regions. Palate and jaw anomalies indicate divergent oro-facial morphogenesis. Altered expression and patterning of hindbrain transcriptional regulators, especially those related to retinoic acid (RA) signaling, prefigures these disruptions. Subsequently, gene expression, axon growth and sensory ganglion formation in the trigeminal (V), glossopharyngeal (IX) or vagus (X) cranial nerves (CNs) that innervate targets essential for feeding, swallowing and digestion are disrupted. Posterior CN IX and X ganglia anomalies primarily reflect diminished dosage of the 22q11DS candidate gene Tbx1. Genetic modification of RA signaling in LgDel embryos rescues the anterior CN V phenotype and returns expression levels or pattern of RA-sensitive genes to those in wild-type embryos. Thus, diminished 22q11 gene dosage, including but not limited to Tbx1, disrupts oro-facial and CN development by modifying RA-modulated anterior-posterior hindbrain differentiation. These disruptions likely contribute to dysphagia in infants and young children with 22q11DS.
 ...
PMID:Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome. 2435 27