Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two infants with torticollis and hiatus hernia (Sandifer Syndrome) are presented. Both infants improved with medical management. Abnormal head and neck positioning is attributed to esophagitis secondary to gastroesophageal reflux, with or without hiatus hernia. Since esophagitis due to reflux is not necessarily accompanied by vomiting, infants with torticollis shoud be studied for gastroesophageal reflux. If present, medical management is usually successful.
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PMID:Torticollis with hiatus hernia in infancy. Sandifer syndrome. 85 42

Gastroesophageal reflux (GER) in the pediatric patient is a frequently recognized problem. Unlike the adult, in whom symptoms relating to esophagitis predominate, the infant and child may present with a variety of respiratory problems, vomiting and/or growth failure. GER is often seen in association with other conditions and must be considered in the evaluation of any pediatric patient with chronic recurring respiratory problems, vomiting or failure to thrive (FTT). Thirty-eight pediatric patients have been surgically managed at West Virginia University from 1977-1983 for GER. The patients fall into several different patterns of presentation and associated problems. Nine premature infants all with bronchopulmonary dysplasia (BPD) have undergone fundoplication for FTT, worsening BPD, and pneumonia. Seven infants and two older children had GER associated with previous esophageal atresia repairs. Esophagitis, vomiting and growth failure were the predominant complaints in this group, though all nine patients had recurring respiratory symptoms as well. Syndromes involving mental retardation and neurologic dysfunction affected another group of five patients, all of whom presented with the complications of long-term esophagitis. The remaining 15 children were otherwise healthy infants who had predominantly respiratory symptoms due to GER. The benefits of fundoplication in these severely affected infants and children far outweigh the relatively few complications. In the carefully selected patient, surgical management of GER is dramatically successful.
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PMID:Patterns of pediatric gastroesophageal reflux. 398 87

OBJECTIVE: This article aims at reviewing one of the most important problems faced by pediatricians in the field of child neurology. The paroxystic non-epileptic events are also a frequent reason for pediatric neurology consultations and admission for diagnostic videoelectroencephalogram monitoring. SOURCES: Literature review on the subject was perform on Medline, data were also collected from the main Pediatric Neurology Textbooks, which were found to be an important and unique source of information on the subject. SUMMARY OF THE FINDINGS: Many of the entities discussed in this paper are very common in the pediatric population such as syncope, breath-holding spells and the movement disorders associated with gastroesophageal reflux. Other syndromes are less frequent such as the paroxysmal dystonias and the Segawa Syndrome (dystonia with diurnal variation). CONCLUSIONS: The basic knowledge of these syndromes is very important since it may avoid unnecessary procedures and the wrongful diagnosis of epilepsy. Patients who are mistakenly diagnosed as epileptics are exposed to anticonvulsant medications, which are probably not going to be effective and may expose them to the risk of side effects.
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PMID:[Paroxysmal non-epileptic events] 1467 71

The TRIAD of encephalopathy, subdural haemorrhages, and retinal haemorrhages is commonly considered diagnostic of Shaken Baby Syndrome, but the original paper describes a statistically linked QUADRAD of features, the fourth of which is a previous history of feeding difficulties (dysphagia). Recent reviews of giving pacifiers (dummies) to infants during sleeping periods have found a significant reduction in the incidence of Sudden Infant Death Syndrome. Stimulation of swallowing is a possible connection with dysphagia, which is examined here, illustrated by a well documented case. Although amniotic fluid passes freely through the larynx of fetal mammals during fetal breathing, application of pure water to the laryngeal epithelium in infants causes choking and laryngeal closure. "Water sensors" in the surface respond to lack of chloride ions and adapt very slowly or not at all. Others have found in puppies that following application of pure water only 32% resume breathing in less than 30-40s. The rest needed at least one saline flush, and some required artificial ventilation in addition. These receptors also respond to high potassium concentrations and acid or alkaline solutions. Normally, airway closure during swallowing or vomiting prevents entry of feed or oesophageal reflux, but in some forms of dysphagia leakage can occur, causing paroxysmal coughing, reflex laryngeal closure, and so prolonged apnoea. Recently, it has been realised that the TRIAD injuries can also result from high intracranial vascular pressures transmitted from intra-thoracic pressure surges during paroxysmal coughing, choking, etc. Triggering of such pressure surges by dysphagic accidents provides a physiological link to injuries commonly considered diagnostic of Shaken Baby Syndrome, completing the statistically identified QUADRAD of features. Further dysphagic research might reveal predictive factors, and preventative measures such as feeds of optimal pH.
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PMID:Dysphagia as a risk factor for sudden unexplained death in infancy. 1679 62

To date, the main respiratory health consequence from the collapse of the World Trade Center (WTC) on September 11, 2001 has been the "WTC Cough Syndrome" (chronic rhinosinusitis, asthma, and/or bronchitis, often complicated by gastroesophageal reflux dysfunction). Syndrome incidence and severity have been linked to WTC dust exposure intensity. While it is too early to ascertain long-term effects of WTC dust exposure, effective treatment guidelines have been designed through a collaborative effort by the three established centers of excellence for WTC medical monitoring and treatment and the WTC Registry. These treatment recommendations are described here.
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PMID:World Trade Center Cough Syndrome and its treatment. 1802 25

Long-term survival post lung transplant is reduced significantly by Bronchiolitis Obliterans Syndrome. It is suggested that extra-esophageal reflux disease is a risk factor for Bronchiolitis Obliterans Syndrome and that antireflux surgery may be beneficial. However, practice between centers varies greatly. We suggest a need for improved evidence and standardization.
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PMID:A call for standardization of antireflux surgery in the lung transplantation population. 1938 54

There has been significant progress in the field of cough in the past 10 years. Obstructive sleep apnoea, tonsillar enlargement and environmental fungi have recently been described as causes of chronic cough. The advances in the assessment of gastro-oesophageal reflux (GOR) have led to a greater understanding of the relationship between cough and GOR and are likely to change the approach to managing patients with GOR-cough. The investigation of the phenotype of patients with idiopathic chronic cough has provided novel insights. Patients with an idiopathic chronic are predominantly female, have an onset of cough around the menopause and have a high prevalence of organ specific autoimmune disease, particularly hypothyroidism. The presence of bronchoalveolar lymphocytosis suggests there is homing of inflammatory cells from primary sites of autoimmune inflammation to the lungs. A heightened cough reflex is a key feature of most patients with chronic cough and has led some investigators to suggest that chronic cough be recognised as a unique entity called Cough Hypersensitivity Syndrome (CHS). A number of subjective and objective tools have been developed recently to assess cough severity. Antitussive drug development is an emerging and exciting area of cough research.
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PMID:New concepts in the management of chronic cough. 2125 71

Sleep disorder is a common medical problem. Sleep disorder has been associated with several diseases, including pulmonary disease, gastroesophageal reflux disease (GERD) and fibromyalgia. Interest in sleep phenomenology and gastrointestinal functioning has recently increased, because sleep disorder causes significant morbidity, as evidenced by the increased need for general medical and mental health treatment for emotional problems. A number of studies have found an association between sleep disorders and functional gastrointestinal (GI) disorders. Although arousal from sleep serves several protective roles, such as increase in the speed of esophageal clearance and in airway refluxes to prevent aspiration, awakening from sleep unfortunately induces impairment of sleep quality. Some investigations about the relationship between psychogenic factors and gut motility are controversial. In addition, reports of alterations in gut motility during sleep have also been contradictory. We have evaluated sleep disorder in functional dyspepsia (FD) patients using Pittsburgh Sleep Quality Index (PSQI) score. In our recent data, PSQI score of FD patients was significantly higher compared to that in healthy volunteers. Another study has reported that the distribution of subjects who thought that they got enough sleep was significantly lower for the FD/irritable bowel syndrome (IBS) subjects than for control subjects. Several studies have reported that anti-acid therapy and prokinetic agents are effective for certain FD patients. In addition, previous study has reported tricyclic antidepressants (TCA) drugs are effective for some FD patients. Finally, new drug, actiamide, a muscarinic antagonist and cholinesterase inhibitor, significantly improves Postprandial Distress Syndrome (PDS) symptoms. It might be critical issues for determination of precise mechanism for functional gastrointestinal disorders to clarify the relationship between gut motility and sleep disorders.
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PMID:Sleep disorders in functional dyspepsia and future therapy. 2365 63

Negative allosteric modulators of metabotropic glutamate receptor 5 (mGlu5) have been actively pursued for over a decade as a potential treatment for anxiety, depression, substance abuse, pain, levodopa-induced dyskinesia in Parkinson's disease, fragile X Syndrome, autism, gastroesophageal reflux disease and lower-urinary-tract disorders. This article begins with an introduction of preclinical validation of potential therapies for psychiatric and neurological disorders, and of clinical results, followed by a comprehensive overview of the mGlu5-negative allosteric modulator patent applications published between 2009 and July 2013, with a focus on the analysis of structure and in silico CNS drug-like properties of example compounds and disclosed data. Given positive results in proof-of-concept studies in humans for certain indications such as levodopa-induced dyskinesia in Parkinson's disease, fragile X Syndrome, gastroesophageal reflux disease, migraine and anxiety, and the soaring chemical diversity among the mGlu5-negative allosteric modulators, there is reason to believe that a drug will emerge from this therapeutic class in the near future.
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PMID:Metabotropic glutamate receptor 5-negative allosteric modulators for the treatment of psychiatric and neurological disorders (2009-July 2013). 2423 42

Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. We submit this challenging case of CdLS with a review of the literature to focus specific attention on the otolaryngic manifestations of the syndrome and to discuss the benefits of a multidisciplinary approach to these unique patients.
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PMID:Cornelia de Lange syndrome: What every otolaryngologist should know. 2884 91


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