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

An 11-year-old female child with Down's syndrome presented with increasing dyspnea and dysphagia. Radiologic studies demonstrated a false aneurysm of an anomalous right subclavian artery which was compressing both trachea and esophagus. The etiology of this aneurysm most probably related to an unsuccessful cardiac catheterization two years prior to this admission. Proximal and distal ligation of the anomalous sublavian artery was accomplished through a right thoracotomy and the patient has remained asymptomatic.
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PMID:Aneurysm of anomalous subclavian artery: an unusal cause of dysphagia lusoria in childhood. 62 16

The Dor-Gavriliu procedure was utilized in six children with achalasia of the cardia from 1983 to 1991. Four boys and two girls (mean age, 10.1 years; range, 3 months to 16 years) presented with symptoms of weight loss (83%), emesis (83%), dysphagia (67%), recurrent respiratory infections (67%), and nocturnal regurgitation (33%). The diagnosis of achalasia was established by barium swallow in all patients; esophageal manometry was used in four patients to confirm the diagnosis. Follow-up ranged from 10 months to 8 years (mean, 3.5 years). Four neurologically normal patients had excellent results with complete resolution of their preoperative symptoms. Two neurologically impaired children, both afflicted with Down's syndrome, had less than excellent results. One moderately impaired child had a good result (required three postoperative bougie dilations over 8 years without demonstration of gastroesophageal reflux); the second, more severely impaired child, had only a fair result (persistent failure to thrive with the development of grade II gastroesophageal reflux). The Dor-Gavriliu procedure uses a transabdominal, anterior esophageal myotomy with incorporation of an effective, nonobstructing, antireflux mechanism that should prevent myotomy reapposition.
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PMID:Surgery for achalasia of the cardia in children: the Dor-Gavriliu procedure. 147 2

We report a 10-year-old Down syndrome patient who developed dystonia, choreoathetosis, dysarthria, and dysphagia beginning with hemiparesis. Cranial computed tomography disclosed bilateral calcification in the globus pallidus which resembled a sign of premature aging. Conversely, the clinical course and magnetic resonance imaging findings resembled those of Hallervorden-Spatz syndrome.
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PMID:Globus pallidus calcification in Down syndrome with progressive neurologic deficits. 153 15

The history, physical examination, and the results of the upper gastrointestinal series, esophageal manometry, 24-h pH recording, endoscopy, and biopsy are reviewed in 16 children (mean age of 10.6 years, range of 3 years 5 months to 15 years 3 months) who presented to the Alberta Children's Hospital with dysphagia ("food-sticking") without previously identified provocative disorders since January 1985. Of the 16 patients, 11 had had intermittent obstruction, and 7 had had intervention to relieve obstruction (2 Heimlich maneuvers, 1 intravenous glucagon, and 4 endoscopy after failure of intravenous glucagon). Although only five children had a recent history suggestive of gastroesophageal reflux, 12 had histologic evidence of reflux esophagitis (including 1 with a peptic stricture, 1 with "nutcracker" esophagus, and 1 with esophageal dysmotility characteristic of Down's syndrome) and all responded clinically to antireflux therapy. Of the remaining four patients, one had extrinsic esophageal compression from a vascular ring (right aortic arch with left ligamentum arteriosum), one had a single and another had recurrent episodes of food-sticking without any identified abnormality, and one declined investigation. In childhood, dysphagia may be the presenting symptom of reflux esophagitis in the absence of a history suggestive of gastroesophageal reflux and without evidence of a peptic stricture.
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PMID:The role of gastroesophageal reflux in pediatric dysphagia. 205 Dec 65

Congenital macroglossia is associated with a variety of syndromes, most commonly Down syndrome and Beckwith-Widemann syndrome. Clinically, macroglossia may result in respiratory compromise, dysphagia, and poor cosmesis. A variety of treatments have been proposed, with surgical resection being the most common. We review management and describe a new surgical technique, consisting of a keyhole resection to decrease the width and length of the tongue. Between 1990 and 1992, five keyhole resections for congenital macroglossia were performed on four consecutive children at Texas Children's Hospital, Baylor College of Medicine, Houston. Patients had improved cosmesis and improved function of the oropharyngeal airway, with no change in speech and feeding. Keyhole resection is an effective treatment for macroglossia.
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PMID:Surgical management of macroglossia in children. 860 62

Achalasia is an uncommon esophageal motor disorder. It has been associated with other diseases such as Parkinson's disease and depressive disorders, but coincidence of achalasia and Down's syndrome is rare. We report five cases of achalasia in Down's syndrome patients seen in our institution. Two of the five cases were diagnosed at pediatric age. Respiratory symptoms and growth retardation were the main clinical manifestations in pediatric patients, whereas adult patients mainly complained of dysphagia. Taking into account the prevalence rate of both disorders, the association seems higher than that expected by chance. The possible etiopathogenic implications of this association, as well as its clinical relevance, are discussed.
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PMID:Achalasia and Down's syndrome: coincidental association or something else? 1036 43

Esophageal involvement is frequent in Down syndrome. We report a case of dysphagia in a 21-year-old patient with Down syndrome and repaired esophageal atresia. Radiology, endoscopy, and manometry showed typical features of achalasia. The patient was treated first by botulinum toxin injection and afterwards by Heller myotomy with good result. The role of motor disorders associated with esophageal atresia or with primary achalasia in this patient is discussed.
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PMID:[Dysphagia in a trisomic adult operated on for esophageal atresia: achalasia or pseudo-achalasia?]. 1042 66

This article reports the second stage of a validation process. It investigates the discriminatory ability of three video indicators of mastication for a group of people with Down's syndrome, representing a target group with neurological disabilities. The variables were generated through video recordings of 11 adults with Down's syndrome and 12 healthy subjects eating four natural foods varying in hardness. The collected variables were masticatory time, number of masticatory cycles, and number of open masticatory cycles. The analytical approach attempts to test four hypotheses exploring the variations of the video indicators according to food hardness for both groups. It was demonstrated that masticatory time and the number of masticatory cycles have very strong, positive correlations and the number of open masticatory cycles has a fair, positive correlation with the food hardness rankings for both groups. Video evaluation of the test variables using real foods in people with Down's syndrome was found to be a valid means of evaluating aspects of their masticatory function.
Dysphagia 2004
PMID:Video evaluation for mastication validation in persons with Down's syndrome. 1538 97

Many people with Down's syndrome (DS) experience eating, drinking, and swallowing (EDS) difficulties, which can potentially lead to life-threatening conditions such as malnutrition, dehydration, and aspiration pneumonia. As the life expectancy of people with DS continues to improve, there is an increasing need to examine how the aging process may further affect these conditions. Published research studies have yet to address this issue; therefore, this article draws on the literature in three associated areas in order to consider the dysphagic problems that might develop in aging people with DS. The areas examined are EDS development in children and adolescents with DS, EDS changes associated with aging, and EDS changes associated with dementia of the Alzheimer's type (DAT) because this condition is prevalent in older adults with DS. This article concludes that unlike in the general population, the aging process is likely to cause dysphagic difficulties in people with DS as they get older. Therefore, it is suggested that longitudinal studies are needed to examine the specific aspects of EDS function that may be affected by aging and concomitant conditions in DS.
Dysphagia 2008 Mar
PMID:The impact of aging on eating, drinking, and swallowing function in people with Down's syndrome. 1769 11

Down syndrome (DS) is the most common chromosomal abnormality occurring in humans. Up to 77% of DS children have associated gastrointestinal (GI) abnormalities, which may be structural or functional in nature. Functional disturbances may, in turn, affect the outcome of corrective surgical procedures, prompting to caution. It is becoming clear that the processes affecting the enteric nervous system (ENS) in DS not only affect the micro-anatomy but also nerve function, and there is some histological evidence of ENS variations in both human and DS animal models. This suggests that developmental disorders of the ENS are probably fundamental to the functional GI disturbances encountered in patients with DS. The anomalous brain development, function and resulting intellectual impairment associated with DS appears to result from the genetic imbalance created by the trisomy of chromosome 21. The possible links between the brain, GI and ENS involvement are not as yet entirely clear. Neurotropic factors affecting brain development during embryogenesis are probably interlinked with ENS development, but the precise mechanism of how this occurs has yet to be established. This study explores what is known about the ENS dysfunction in DS and reviews the possible importance of chromosome 21 located and other genes in its etiology. Functional motor disturbances of the esophagus and colon are not uncommon and may be congenital or acquired in nature. The most prominent of these include esophageal dysmotility syndromes (e.g. achalasia, gastroesophageal reflux, dysphagia) as well as a higher incidence of chronic constipation and Hirschsprung's disease (HSCR) (2-15%) occurring in association with DS. Chromosome 21 itself is thought to be the site of a modifier gene for HSCR. Recently identified candidate genetic mechanisms provide unique insights into the genetic background of the neurological and cognitive disorders associated with DS. Although the role of the triplicated chromosome 21 and genetic dosage remain important, the additional role of other chromosome 21 genes in the etiology of ENS developmental anomalies remains undetermined and requires ongoing research.
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PMID:Down syndrome and the enteric nervous system. 1863 23


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