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)

As knowledge of the human genome grows, there will be a direct impact on the management of specific diseases. Within gastroenterology and hepatology, there has been a change in the understanding of how variations or mutations in genes involved in drug metabolism or disease pathophysiology affect response to therapy. This review discusses the application of clinical pharmacogenetics to the following diseases and disorders: inflammatory bowel disease, Helicobacter pylori infections, gastroesophageal reflux disease, irritable bowel syndrome, functional dyspepsia, liver transplantation and colon cancer. Although only a few genotyping tests are regularly used in clinical practice, it is anticipated that studies will propel the routine use of many of the tests described in this review, in the future.
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PMID:Clinical application of pharmacogenetics in gastrointestinal diseases. 1702 Apr 13

Stress has been defined as an acute threat to the homeostasis of the organism. The mucosal lining of the gastrointestinal tract, a single layer of epithelial cells held together by tight junctions, provides a barrier between the external environment and the body's internal milieu. Any mechanism that breaches the tight junction exposes the body to foreign material be it protein, microorganisms or toxins. Stresses include physiological (exercise), psychological, disease-related or drug-induced factors. Stress associated gastrointestinal disorders include functional dyspepsia irritable bowel syndrome (IBS), gastroesophageal reflux disease peptic ulcer disease, and inflammatory bowel disease (IBD). Some disease states disrupt gastrointestinal barrier function, e.g. infectious diarrhea, IBD, or celiac disease, whilst in others such as eczema it can be indirectly related to antigenic disruption of the barrier. Drugs, e.g. chemotherapy agents and nonsteroidal anti-inflammatory drugs, also disrupt barrier function. Malnutrition and nutritional deficiencies (zinc, folic acid, vitamin A) also predispose to mucosal damage. Assessment of gastrointestinal mucosal health has proved problematic as invasive techniques, whilst useful, provide limited data and no functional assessment. Noninvasive tests particularly breath tests do provide functional assessment and many can be used together as biomarkers to improve our ability to define a stressed mucosa. Therapeutic options include pharmacotherapies, immunomodulation or immunotherapy.
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PMID:Stressed mucosa. 1724 96

General localization of gastrointestinal bleeding through the use of labeled red blood cells may be performed in children, or (99m)Tc-pertechnetate may be used if a Meckel's diverticulum is suspected. As in adults, cholecystitis and biliary leak may be assessed in children via (99m)Tc-IDA derivatives. Gastroesophageal reflux can be evaluated by oral consumption of the child's usual diet labeled with (99m)Tc sulfur colloid. For the scintigraphic determination of pulmonary aspiration, a relatively high concentration of tracer within a drop of liquid is placed beneath the child's tongue followed by dynamic imaging of the respiratory tract. Colonic transit scintigraphy can aid in the identification and therapeutic decision-making in patients with functional fecal retention, the most common cause of chronic constipation in children. (18)F-DOPA positron emission tomography is useful for classifying pancreatic involvement in infantile hyperinsulinism as focal or diffuse, thereby differentiating between patients who should receive curative focal pancreatic resection versus those who should receive medical management. Assessment of protein-losing enteropathy can be conducted scintigraphically and, compared with fecal alpha-1 antitrypsin collection, the scintigraphic method can detect esophageal and gastric protein loss. Also, scintigraphic quantification of protein loss can be performed without the requirement for fecal collection. Intestinal inflammation in children with inflammatory bowel disease can be evaluated using (99m)Tc white blood cells. The scintigraphic method is safe, accurate, well-tolerated by children and complementary to endoscopy in most patients.
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PMID:Pediatric gastrointestinal nuclear medicine. 1754 27

The term "Western diseases" refers to those conditions that are rare or absent in underdeveloped areas of the Third World and increase in frequency with adoptions of Western customs. In adults, they include such common conditions as coronary artery disease, essential hypertension, appendicitis, cholesterol gall stones, and colon cancer. The best examples of Western diseases in the pediatric population are asthma, allergies, appendicitis, and inflammatory bowel disease. Limited data from sub-Saharan Africa suggest other pediatric surgical conditions may fall into this category, including hypertrophic pyloric stenosis, gastroesophageal reflux, perirectal abscess, anal fissure, gastroschesis, and neuroblastoma. Existing theories for the origins of Western diseases have postulated a role for decreased dietary fiber, improved hygiene, fetal programming, and a protective effect of tropical enteropathy. How these factors might relate to the rise of appendicitis, inflammatory bowel disease, and possibly other common pediatric surgical diseases in industrialized societies remains poorly understood. Further research is needed to better define geographical differences in common pediatric surgical conditions and to investigate how genetic and environmental factors interact to modify risk of disease. Understanding the molecular mechanisms that give rise to Western diseases could lead to new therapeutic and prevention strategies for some of the most common pediatric surgical conditions in industrialized countries.
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PMID:Western diseases: current concepts and implications for pediatric surgery research and practice. 1808 4

It is anticipated that unraveling the human genome will have a direct impact on the management of specific diseases. Variations or mutations in genes involved in drug metabolism or disease pathophysiology in gastroenterology and hepatology are expected to have effect on response to therapy. The spectrum of diseases is vast. Thus, we focus this review on clinical pharmacogenetics of inflammatory bowel disease, Helicobacter pylori infections, gastroesophageal reflux disease, irritable bowel syndrome, liver transplantation, and colon cancer. Although only a few genotyping tests are used regularly in clinical practice, we anticipate that in the future there will be more routine use of many of the tests described in this review.
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PMID:Pharmacogenomics in gastrointestinal disorders. 1837 Feb 39

Gastrointestinal problems account for a significant proportion of general practitioners' workload, and gastrointestinal cancers, taken together, make up the largest group of malignancies. Approximately 10% of consultations in general practice in the UK are for gastrointestinal symptoms or problems, split roughly equally between the upper and lower gastrointestinal tract. Gastroenterology represents about 10% of the work of hospital specialists and the prescribing costs involved in the management of gastrointestinal disorders in general practice are around 14% of the drug budget. These disorders range from relatively minor and self limiting conditions such as acute gastritis and acute gastroenteritis, through the more significant, chronic digestive disorders such as gastro-oesophageal reflux disease (GORD), irritable bowel syndrome (IBS) and coeliac disease, to much more serious problems including inflammatory bowel disease (IBD) and upper gastrointestinal and colorectal cancer.
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PMID:Primary care research and clinical practice: gastroenterology. 1894 Sep 46

The 12th Update in Gastroenterology and Hepatology for the Primary Care Practitioner is an annual course organized by the Division of Gastroenterology and Hepatology at the University of California, Davis, and held in beautiful Monterey, California. The course was geared towards primary care physicians, nurse practitioners and other allied health professionals. The goals of this symposium were to provide current information regarding the diagnosis and management of digestive diseases commonly seen in the primary care setting and to provide practical guidelines for disease management. Topics covered during this symposium included viral hepatitis, alcoholic liver disease, hepatocellular carcinoma, dysphagia, gastroesophageal reflux disease, chronic diarrhea, inflammatory bowel disease, irritable bowel syndrome, dyspepsia, gastroparesis and bariatric surgery. The course was organized into two sessions each morning, over 2 days, with three or four 30-min lectures. A brief question-and-answer session followed each lecture.
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PMID:12th Update in Gastroenterology and Hepatology for the Primary Care Practitioner. 1907 40

Eosinophilic esophagitis is increasingly recognized in adults. The diagnosis is based on the presence of both typical symptoms and pathologic findings on esophageal biopsy. Patients usually present with dysphagia, food impaction and/or reflux-like symptoms, and biopsy of the esophagus shows more than 15 eosinophils per high-power field. In addition, it is essential to exclude the presence of known causes of tissue eosinophilia such as gastroesophageal reflux disease, infections, malignancy, collagen vascular diseases, hypersensitivity, and inflammatory bowel disease. There are no standardized protocols for the therapy of eosinophilic esophagitis. A variety of therapeutic approaches including acid suppression, dietary modifications, topical corticosteroids and endoscopic dilation can be used alone or in combination.
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PMID:Eosinophilic esophagitis. 1911 64

The relation between the respiratory and gastrointestinal systems has been long recognized and depends on various anatomical, physiological and pathological mechanisms. The certain recognition of some interactions, such as the relation between asthma and gastroesophageal reflux, is more or less intuitive to the pulmonogist, whereas other areas of confluence are more easily missed, such as the relation between airway disorders and inflammatory bowel disease. The purpose of this article is to review the interaction between the lung and the gastrointestinal systems, as far as anatomy, physiology, pathology, clinical manifestations and therapeutical options go.
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PMID:[Boundaries of the lung - Relationship to the gastrointestinal system]. 2005 13

Mast cells (MCs) typically reside at barrier sites of the body, including the intestinal mucosa, and play a vital role in innate host defence. Activated MCs release a wide variety of bioactive mediators. These include preformed mediators stored in the granules (e.g. histamine and tryptase) and newly synthesised mediators (e.g. prostaglandins, leukotrienes and cytokines). MCs are present in all layers throughout the gastrointestinal (GI) tract and there is a close bi-directional connection between MCs and enteric nerves that is of vital importance in the regulation of GI functions. Some gain-of-function mutations in c-kit, encoding the tyrosine kinase- receptor for stem cell factor, are associated with the rare disease entity, systemic mastocytosis. These patients present symptoms arising from MC mediator release or infiltration. GI manifestations are common in this patient group, mainly abdominal pain and diarrhoea. Endoscopy with biopsies reveals MC infiltration in the mucosa. Other diagnostic tools include bone marrow biopsy and serum tryptase. Treatment is symptomatic with antihistamines or cromoglycate in mild cases, whereas severe cases need cytoreductive therapy that should be managed with expert haematologists. From a day-to-day clinical perspective, the important role of MCs in neuroimmune interaction has been implicated in the intestinal response to stress, in alterations of mucosal and neuromuscular function in irritable bowel syndrome or inflammatory bowel disease, and in the pathogenesis of non-erosive oesophageal reflux disease. Thus, MCs have important regulatory and protective roles in innate defence, in addition to being a potential mediator of mucosal pathophysiology in GI diseases. We need to learn how to balance the response of these volatile cells to be able to benefit from their versatility.
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PMID:Mast cells and mastocytosis. 2020 9


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