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)

In infantile Pompe's disease, enzyme replacement therapy (ERT) has been shown to reverse cardiomyopathy, improve skeletal muscle strength, and prolong survival. We report on five patients in whom complications related to gastroesophageal reflux (GER) resulted in deterioration of their clinical status despite initial improvement under ERT. Surgical antireflux therapy, performed in four, yielded positive results in two. Three patients experienced severe aspirations related to GER and underwent fundoplication and gastrostomy subsequently. Two did not regain former motor functions and deceased shortly thereafter, while one slowly recuperated and is in a stable state at age 53 months. In a further patient, severe GER prompted fundoplication at age 17 months. No aspirations occurred until the girl deceased probably due to cardiac arrest 20 months later. These cases suggest that infants with Pompe's disease under ERT may benefit from timely performed fundoplication and gastric tube placement.
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PMID:Treatment of gastroesophageal reflux with nissen fundoplication and gastrostomy tube insertion in infantile pompe's disease. 1963 25

The etiology of takotsubo cardiomyopathy (TC), defined as a transient left ventricular dysfunction in the absence of significant coronary artery stenoses, still reminds unclear. Its onset is often associated with emotional stress or progression in the course of various disorders (including gastrointestinal ones), miscellaneous diagnostic and therapeutic procedures. We describe a case of a 67-year-old man, in whom severe left ventricular function impairment, completely reversible after a week, was observed during hospitalization for gastroesophageal reflux disease (GERD) exacerbation. The authors review the literature on TC cases which were preceded by digestive system illness, examination or surgery and discuss the possible mechanisms of this relationship.
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PMID:[Takotsubo cardiomyopathy as a consequence of gastrointestinal disorder--a case preceded by exacerbation of gastroesophageal reflux disease]. 2209 80

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive form of interstitial lung disease (ILD), characterized by fibrosis and worsening lung function, that primarily occurs in those 50 years and older. Various causes including genetic susceptibility, environmental risk factors, and exposures have been suggested in the literature. All of these cause repetitive micro-injury to the lung tissue and vasculature, which triggers a cascade of inflammatory response and fibrosis. Symptoms are nonspecific and most patients present several years after the initial radiographic changes occur. Diagnosis requires a high index of clinical suspicion supported by distinct radiographic and/or histopathologic findings. Median survival is estimated at between 2 and 3 years after diagnosis. Other than lung transplantation, no treatment has shown survival benefit. Two most recently approved medications for IPF, pirfenidone and nintedanib, can slow disease progression. Most patients have several comorbid conditions that can affect the course of their disease, including gastroesophageal reflux disease, obstructive sleep apnea, cardiomyopathy, and pulmonary hypertension. Observational studies suggested possible benefits in transplant-free survival and patients' outcomes with these medications. In addition to the new treatment options and optimal management of the comorbidities in patients with IPF, pulmonary rehabilitation remains a critical part of management and has been shown to improve quality of life and functional level. Considering the complexity of the diagnosis and management, the American Thoracic Society and European Respiratory Society published a joint statement on diagnosis and treatment of IPF. This article provides an overview of the epidemiology, pathophysiology, and guideline-recommended approaches for the diagnosis and management of IPF.
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PMID:Overview of idiopathic pulmonary fibrosis (IPF) and evidence-based guidelines. 2897 12

Atrial fibrillation (AF) is a recognised arrhythmic risk of endurance sports participation, predominantly affecting middle-aged men who are lifelong athletes. Affected athletes were historically included in the category of lone AF, although specific pathophysiological processes apply to this condition, referred to as exercise-related AF. Younger non-endurance athletes may also present with AF, particularly when associated with co-existing cardiomyopathy or arrhythmia syndrome. Management of exercise-related AF is largely based on evidence from randomised trials in non-athletes. Cornerstones of treatment are, thus, thromboembolic risk reduction and risk factor modification. Rhythm control is generally preferred over rate control due to frequent presentation with symptomatic AF during the paroxysmal phase. Many therapies specific to athletes are based on expert consensus alongside observational data in athletic populations. These include: recommendations to detrain; treatment of symptomatic oesophageal reflux; and preferential use of anticholinergic antidysrhythmic agents to address the predominance of "vagal" AF in athletes. Ongoing research involving cardiac ion channel remodelling and systemic inflammation as mediators of AF genesis may provide future novel therapeutic targets for exercise-related AF. Ablative therapy shows promise in the athletic population with AF, although evidence remains limited. International consensus guidance for disqualification from competitive sports exists to guide medical management alongside athletes' preferences to continue to participate. This review focusses on isolated exercise-related AF and reviews the evidence supporting postulated management recommendations of this unique patient population.
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PMID:Management of Atrial Fibrillation in the Athlete. 2986 23