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)

Manometric criteria for diffuse esophageal spasm have recently been restated. In this study, a cohort of 358 subjects was evaluated in a gastrointestinal motility laboratory for dysphagia and/or chest pain. Applying the recently proposed criteria of Richter and Castell, 18 subjects (5%) were diagnosed as having DES. Dysphagia was the major complaint (89%), while 44% of patients complained of chest pain and 33% of both symptoms. All patients shared more than 30% simultaneous contractions after wet swallows interspersed with normal peristaltic sequences. Associated manometric findings were repetitive (greater than 3 peaks) contractions (67%), high-amplitude contractions (33%), spontaneous activity (22%), prolonged duration (11%), and lower esophageal sphincter abnormalities (5%). Radiology disclosed significant abnormalities in only 27% of DES patients.
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PMID:Clinical and manometric aspects of diffuse esophageal spasm in a cohort of subjects evaluated for dysphagia and/or chest pain. 224 5

Diffuse esophageal spasm is an uncommon motility disorder that is found in less than 5% of patients undergoing esophageal motility testing for dysphagia. It is defined manometrically by the presence of 20% or more simultaneous contractions in the distal esophageal body with normal peristalsis. This motility abnormality has been traditionally identified as occurring primarily in the smooth muscle portion of the distal esophagus yet, the term "diffuse" persists in the medical literature to identify DES. The aim of our study was to assess the diffuse or limited nature of this entity by evaluating the prevalence of simultaneous contractions in both proximal and distal esophagus in patients with DES. We reviewed esophageal motility tracings of 53 consecutive patients (32 F, 21 M) with DES and compared them with 53 age-matched patients with manometric normal studies. In the distal esophagus we found 195 simultaneous contractions (37% of swallows) with a median of 3 and range of 2-7 per patient. Of the 53 patients with DES a total of 13 simultaneous contractions (2% of swallows) occurred in the proximal esophagus with only 3 (5.6%) of the 53 patients having 2 or more simultaneous contractions in 10 swallows. None of the patients with normal manometry showed more than one simultaneous contraction in either proximal or distal esophagus. In conclusion, these findings suggest that the term diffuse esophageal spasm is a misnomer and the DES is more appropriately described as "distal" esophageal spasm.
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PMID:Diffuse esophageal spasm: not diffuse but distal esophageal spasm (DES). 1287 Aug

In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named 'scapuloperoneal syndrome type Kaeser' (OMIM #181400). By genetic analysis of the original kindred, we discovered a heterozygous missense mutation of the desmin gene (R350P) cosegregating with the disorder. Moreover, we detected DES R350P in four unrelated German families allowing for genotype-phenotype correlations in a total of 15 patients carrying the same mutation. Large clinical variability was recognized, even within the same family, ranging from scapuloperoneal (n = 2, 12%), limb girdle (n = 10, 60%) and distal phenotypes (n = 3, 18%) with variable cardiac (n = 7, 41%) or respiratory involvement (n = 7, 41%). Facial weakness, dysphagia and gynaecomastia were frequent additional symptoms. Overall and within each family, affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Moreover, histological and immunohistochemical examination of muscle biopsy specimens revealed a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. This study reveals that the clinical and pathological variability generally observed in desminopathies may not be attributed to the nature of the DES mutation alone, but may be influenced by additional genetic and epigenetic factors such as gender. In addition, mutations of the desmin gene should be considered early in the diagnostic work-up of any adult-onset, dominant myopathy, even if specific myofibrillar pathology is absent.
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PMID:Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 1747 Apr 97

The incidence, mode of presentation and management of Dancing Eye Syndrome/Opsoclonus-Myoclonus Syndrome (DES/OMS) was prospectively evaluated in 20 United Kingdom (UK) paediatric neurology centres by questionnaire over a 24-month period between 2003 and 2005. Nineteen children were notified, giving an incidence of 0.18 cases per million total population per year. Mean age at presentation was 18 months (range 3-42 months). Fifteen families consented to participate in the study. Atypical features were present in 6/15 cases including very delayed presentation of opsoclonus, dysphagia, and rapid spontaneous improvement without treatment. Only 4/15 cases were associated with neuroblastoma (NB) but current practice in excluding this is diverse and a standardised approach is suggested.
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PMID:A prospective study of the presentation and management of dancing eye syndrome/opsoclonus-myoclonus syndrome in the United Kingdom. 1942 68

Bolus transit through the esophagus has not been validated by videoesophagram in patients with dysphagia and changes in impedance with abnormal barium transit have not been described in those patients. The aim of this study was to compare esophageal impedance findings with barium esophagram measurements in patients with dysphagia. The consecutive patients with dysphagia underwent conventional multichannel esophageal impedance manometry, after which a barium videoesophagram was performed simultaneously with multichannel esophageal impedance manometry using a mean of three swallows of barium. Esophageal emptying patterns shown in the esophagogram were classified by the degree of intraesophageal stasis and presence of intraesophageal reflux. Bolus transit patterns in impedance were classified as complete and incomplete transit. Sixteen patients (M : F = 8 : 8, mean age, 47 years) were enrolled. Their manometric diagnosis were normal (n= 6), ineffective esophageal motility (n= 1), diffuse esophageal spasm (DES; n= 2), and achalasia (n= 7). Sixty-three swallows were analyzed. According to impedance analysis, 21/22 swallows with normal barium emptying showed complete transit (96%) and 31/32 swallows with severe stasis showed incomplete transit (97%). Nine swallows with mild stasis showed either complete or incomplete transit patterns in impedance. Swallows with mild barium stasis and complete transit in impedance were observed in patients who had received treatment (two patients with achalasia with history of esophageal balloonplasty and a patient with DES after nifedipine administration). Impedance reflected severe stasis with retrograde barium movement and described typical bolus transit patterns in patients with achalasia and DES. In conclusion, impedance-barium esophagram concordance is high for swallows with normal esophageal emptying and for severe barium stasis in patients with dysphagia.
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PMID:Comparison of bolus transit patterns identified by esophageal impedance to barium esophagram in patients with dysphagia. 2166 70