Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A problem of some complexity is the management of pathological gastro-esophageal reflux due to the presence of cardio-hiatal malformation, malposition of the cardia and gastric tuberosity, a congenitally short esophagus, and the like. Sometimes, however, there is no demonstrable morphological aleration and the condition, characterized by primitive hypotonia of the LES, goes under the name of infant chalasia of the esophagus. The general policy is to try first a conservative treatment consisting of dietary and postural measures and the administration of metoclopramide and d;ugs that protect the esophageal mucosa; this stage, however, should not be prolonged beyond 6 weeks. The presence of gastro-esophageal reflux associated with hiatal hernia; the presence of severe esophagitis or peptic stenosis of the esophagus and the persistence of symptoms after an adequate period of conservative therapy constitute as many indications for surgical correction. Good results can be obtained by restoring or strengthening the failing function of the LES, as is done quite successfully with funduplication after Nissen or with method of Belsey-Mark IV.
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PMID:[Current trends in the treatment of reflux esophagitis in childhood]. 69 26

Multiple factors contribute to the production of esophagitis in gastroesophageal reflux (GER), but the respective roles of esophageal (i. e. lower esophageal sphincter (LES) tone, peristalsis) and gastric factors (i. e. acid secretion and gastric emptying) are not well known. The aim of this work was to study the frequency and the severity of esophageal and gastric abnormalities observed in the same patients and to correlate these findings with the degree of esophagitis. Thirty-three consecutive patients with GER proven by esophageal pH recording (3-hr postprandial pH-test) were classified according to the presence (group A, n = 18) or absence (group B, n = 15) of severe esophagitis (i. e. erosions, ulcerations, or stenosis) at endoscopy. LES basal tone and esophageal peristalsis were studied by manometry. Gastric acid secretion and emptying of liquids were measured by intragastric titration coupled with the dye dilution technique. Results obtained in GER patients were compared with those found in twenty-three normal subjects. Hypotonia of LES (i. e. LES tone less than 7 cm H2O) was more frequent in group A (72 p. 100) than in group B patients (30 p. 100, p less than 0.05). Magnitude of esophageal peristaltic waves was lower in group A than in group B (p less than 0.10). When compared to values found in normal subjects, gastric emptying and acid secretion were not significantly different both in presence and in absence of esophagitis. There was no linear correlation between esophageal pH parameters and acid secretion values or gastric emptying rates.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Reflux esophagitis: respective roles of esophageal and gastric pathogenic factors]. 379 41

The prevalence of associated reflex esophagitis and the effects of surgery for ulcer on coexistent esophagitis were assessed in 687 patients operated on for duodenal or pyloric ulcer. Eighty-one patients (12%) had a preoperative endoscopic diagnosis of reflux esophagitis. The association resulted to be more frequent in patients with pyloric or bulbar stenosis than in patients without stenosis (20% vs 5%, p = 0.000001). Billroth II gastric resection, performed in most cases, caused the healing or the improvement of esophagitis in 95% of cases as demonstrated at endoscopy 6 months after surgery, particularly in 98% of patients with pyloric or bulbar stenosis and in 80% of patients without stenosis (p = 0.05). Therefore, gastric resection, eliminating the main pathogenetic factors of reflux esophagitis associated with pyloric or bulbar stenosis (gastric acid hypersecretion, impaired gastric emptying), assures the healing of esophagitis in most cases. However, anomalies in Lower Esophageal Sphincter function might play an important role in the pathogenesis of reflux esophagitis in duodenal ulcer patients without stenosis. In these patients, on the basis of manometric and pH monitoring data, it may be useful to associate an anti-reflux procedure or a duodenal diversion with a gastric resection in presence of Lower Esophageal Sphincter hypotonia.
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PMID:Surgical management of reflux esophagitis associated with duodenal ulcer. 754 30

To assess the correlation between esophageal manometry and 24-h pH-metry and the clinical, endoscopic and radiological picture, we carried out a retrospective analysis of the data of 175 patients in 2001-2002 with symptoms of gastroesophageal reflux disease and/or the established presence of esophagitis. The data were analyzed on the basis of the mean, standard deviation (SD) and percentage (%). Student's "t"-test was used to calculate statistical significance (P < 0.05). pH-metry was positive in 112 cases (64% R+) and negative in 63 (36% R-). Manometry revealed a significant sphincter hypotonia and a greater involvement of peristalsis in R+ patients. There was no significant relationship between symptoms and response to medical treatment compared to a positive pH-metry. Ninety-three (53%) patients presented esophagitis, while 58 (33%) had a hiatal hernia. Esophagitis was more frequent in R+ patients, while hiatal hernia was equivalent in both groups. In the diagnosis and treatment of gastroesophageal reflux disease, the first step is empirical medical therapy. If symptoms persist, esophagogastroduodenoscopy and barium radiology are performed to evaluate the presence of esophagitis and/or gastroesophageal reflux and any related diseases. Manometry and pH-metry (the gold standard for the diagnosis of gastroesophageal reflux disease) are therefore always performed in patients with atypical symptoms of patients to be subjected to surgical treatment.
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PMID:Role of manometry and pH-metry in patients with symptoms and signs of gastroesophageal reflux disease. 1472 17

In this prospective study, we assessed the diagnostic capabilities of multidetector computed tomography (CT) in various esophageal pathologic conditions. Thirty-three patients underwent a multidetector CT study after esophageal distention by means of effervescent powder administered after induction of pharmacologic esophageal hypotonia. All acquired images were post-processed with two- and three-dimensional software tools. The CT data were compared with the results of conventional radiology (33), endoscopy (28), endoscopy ultrasonography (14), or surgery (14). Follow-up ranged between 4 and 15 months. Esophageal distention in the upper and middle thirds was classified as "good" in 32 of 33 cases (97%); in the lower third, esophageal distention was "good" in 21 of 33 cases (64%). Final diagnoses were leiomyoma (six cases), squamous cell carcinoma (six), adenocarcinoma (four), esophageal infiltration by thyroid cancer (two), benign polyposis (two), chronic esophagitis (five), post-sclerotherapy stenosis (one), no abnormalities (seven). When good distention was achieved, the thickness of unaffected esophageal wall was less than 3 mm (range, 1.5-2.4 mm; mean, 1.9 mm). Pathologic wall thickening was observed in 25 of 33 cases (76%), with values ranging between 3.6 and 36 mm (mean, 9.6 mm). Spiral CT demonstrated 21 true positive cases, and seven true negative cases. There were four false negative cases and one false positive case. Sensitivity was 84%, specificity was 87%, diagnostic accuracy was 85%, positive predictive value was 95%, and negative predictive value was 64%. Evaluation of the esophagus with multidetector CT is a promising technique and easy to use, allowing panoramic exploration, virtual endoluminal visualization, accurate longitudinal and axial evaluations, and simultaneous evaluation of T and N parameters.
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PMID:Multidetector CT and virtual endoscopy in the evaluation of the esophagus. 1516 Jul 44

Severe, life-threatening toxicity may be caused by errors in chemotherapy administration. To contribute with some useful information on drug-induced toxic effects and salvage therapy, we report a case of vinblastine (VBL) overdose (25 mg/m(2)) in a 12-year-old child affected by an end-stage metastatic primitive neuroectodermal tumor. Early signs of toxicity were acute, severe musculoskeletal pain and fever. This was followed by intestinal hypotonia, severe esophagitis, and peripheral neuropathy. Two consecutive plasma exchange procedures were performed at 4 and 18 hr after the administration of the overdose of VBL. The overall toxicity this child experienced was much less severe than expected; this finding, in combination with the known pharmacokinectis data of VBL in children, made us hypothesize that plasma exchange might have had a role in lowering the side effects of drug over dosage.
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PMID:A case of vinblastine overdose managed with plasma exchange. 1560 12

Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes.
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PMID:A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. 2762 64

Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, expressive speech impairment, movement disorder, epilepsy, and a happy demeanor. Children with AS are frequently reported to be poor feeders during infancy and as having gastrointestinal issues such as constipation, reflux, and abnormal food related behaviors throughout their lifetime. To assess the prevalence of gastrointestinal disorders in individuals with AS, we retrospectively analyzed medical records of 120 individuals seen at the Angelman Syndrome Clinic at Massachusetts General Hospital and 43 individuals seen at the University of North Carolina Comprehensive Angelman Clinic. The majority of patients' medical records indicated at least one symptom of gastrointestinal dysfunction, with constipation and gastroesophageal reflux disease (GERD) the most common. Other gastrointestinal issues reported were cyclic vomiting episodes, difficulty swallowing, excessive swallowing, and eosinophilic esophagitis. Upper gastrointestinal symptoms such as GERD, swallowing difficulties, cyclic vomiting, and eosinophilic esophagitis were more common in those with deletions and uniparental disomy, likely related to the involvement of multiple genes and subsequent hypotonia. The frequency of constipation is consistent among all genetic subtypes while early feeding issues appear to mainly affect those with deletions. Caregivers and healthcare providers should be aware of the high prevalence of these issues, as proper treatment may improve not only gastrointestinal dysfunction but also sleep and behavioral issues.
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PMID:Prevalence of gastrointestinal symptoms in Angelman syndrome. 2881 3