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)

Congenital esophageal stenosis (CES) is a rare disorder with narrowed esophageal lumen that presents as dysphagia from childhood and that is often associated with tracheobronchial remnants or webs. The pathogenesis of CES is unknown. The aim of this study was to examine the histological and immunohistochemical features of CES. Esophagi from 2 young adults with CES and 3 controls with no motility disorders underwent routine H&E staining, trichrome staining for collagen, and detailed immunocytochemical studies for general neuronal markers (protein gene product 9.5, neuron-specific enolase, and S-100) and neurotransmitters (vasoactive intestinal polypeptide, substance P, and galanin) and nitric oxide synthase by beta-nicotinamide adenine dinucleotide phosphate (NADPH)-diaphorase and a specific NO synthase antibody. Quantitative experiments compared the numbers of myenteric neurons and amounts of fibers at the circular muscle. CES esophagi showed infiltration of neutrophils in the myenteric plane, without any increase in collagen. NADPH-diaphorase histochemistry showed a significant reduction of myenteric nitrinergic neurons (7 +/- 3.4 vs. 2.7 +/- 1.8 neurons per high-power field) and fibers at the circular muscle. Other peptidergic neurons studied were not significantly reduced in CES. The specific total lack of NO inhibitory innervation may be an important mechanism in the pathogenesis of stenosis and aperistalsis of the esophagus in this disorder.
 ...
PMID:Peptidergic and nitrinergic denervation in congenital esophageal stenosis. 754 Oct

In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree. More recently, it was shown that this original DFN-1 family represented a new type of recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. This new disorder, termed Mohr-Tranebjaerg syndrome (referred to here as DFN-1/MTS) was mapped to the Xq21.3-Xq22 region2. Using positional information from a patient with a 21-kb deletion in chromosome Xq22 and sensorineural deafness along with dystonia, we characterized a novel transcript lying within the deletion as a candidate for this complex syndrome. We now report small deletions in this candidate gene in the original DFN-1/MTS family, and in a family with deafness, dystonia and mental deficiency but not blindness. This gene, named DDP (deafness/ dystonia peptide), shows high levels of expression in fetal and adult brain. The DDP protein demonstrates striking similarity to a predicted Schizosaccharomyces pombe protein of no known function. Thus, is it likely that the DDP gene encodes an evolutionarily conserved novel polypeptide necessary for normal human neurological development.
 ...
PMID:A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. 884 Nov 89

Radiation therapy for malignant head and neck tumours is mainly responsible for inadvertent damage of the salivary glands. Xerostomia is the major symptom of this condition, with consequent mucositis, dental caries, dysphagia and nutritional deficits. At present there is no routine treatment for radiation-induced salivary dysfunction. Based on the principles of tissue engineering, this study presents a new experimental concept for reconstituting salivary gland function after radiation therapy for head and neck cancer. Human parotid cells were cultured with two different types of commercially available microcarriers-Cytodex 3 and Cytopore 1-for up to 3 weeks in vitro. Cultures were controlled daily by means of inverted microscopy. Medium samples were tested for alpha-amylase, tissue polypeptide antigen (TPA) and S100 in order to control parotid cell function in vitro. The vitality of the cells was investigated by in vitro staining with erythrosine. Immunocytochemical analysis for amylase and cytokeratin was performed in order to confirm epithelial character and maintain acinar cell type. Parotid gland cells could be cultured in a differentiated and vital state on both types of microcarriers for up to 3 weeks. Almost all of the cultured cells exhibited immunoreactivity for cytokeratin. High concentrations of TPA, a specific marker for salivary duct epithelium, indicated persistent differentiation of this cell type in vitro. Positivity for amylase was detectable in 20-45%, of cells growing on the microcarriers, and especially on Cytodex 3. Decreasing amylase levels in the culture medium indicated functional deficiencies of the remaining acinar cells. Tissue engineering of human salivary gland organoids on microcarriers is a new approach for potential causative treatment of radiation-induced xerostomia. Before clinical application can be considered significant improvements in the in vitro cultivation of salivary gland tissue and scaffold design have to be realized.
 ...
PMID:Tissue engineering of human salivary gland organoids. 1220 66