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)

Recent data suggest that, contrary to initial expectations with improvements in perinatal medicine, the prevalence of cerebral palsy has not decreased over the last 20 years. Gastrointestinal disorders are a major chronic problem in most of children with cerebral palsy and in children with neurodevelopmental disabilities. A multidisciplinary approach, with input from neurologists, gastroenterologists, nurses, dieticians and other specialists, can make a major contribution to the medical wellbeing and quality of life of these children and their caregivers. This article focuses on diagnostic methods and therapeutic options available for major nutritional and gastrointestinal problems in patients with neurological disabilities: gastroesophageal reflux, constipation and swallowing disorders.
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PMID:[Gastrointestinal disorders in children with cerebral palsy and neurodevelopmental disabilities]. 2081 82

There has been an underestimation of the impact of irritable bowel syndrome (IBS) on an individual's functioning and quality of life (QoL). The general health status of both young and elderly individuals with IBS is generally found to be poorer than that of the general population. Patients with IBS seem to have worse health-related quality of life (HRQoL) than patients with certain other conditions such as gastroesophageal reflux disease, diabetes, and end-stage renal disease. Various disease-specific instruments are now available and are widely used in clinical trials to measure changes in QoL in patients with IBS after treatment intervention. Although few such data are presently available from clinical trials, it seems that patients who have a therapeutic response to therapy for IBS have a corresponding improvement in HRQoL. There seems to be no major differences in HRQoL based on IBS subtype (constipation-dominant or diarrhea-dominant). However, the severity of bowel symptoms in IBS is associated with a corresponding impact on HRQoL and patients with worse bowel symptoms have a greater diminished QoL compared with patients with milder symptoms. Evidence also indicates that HRQoL in patients with IBS is affected by sex and psychological conditions. Careful consideration of these factors may help to individualize a therapeutic strategy to optimize long-term outcomes.
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PMID:Quality of life in patients with irritable bowel syndrome. 2166 28

In systemic sclerosis esophagus is affected in 90% followed by anal and rectal involvement (50-70%), stomach (40-70%), colon (10-50%) and small bowel (40%). The main clinical findings are esophagic: dysphagia and sign of gastroesophageal reflux and its complications. Gastric symptomatology is a consequence of gastroparesis (postprandial fullness, nausea). Intestinal affection produces hypomotility (abdominal distention, deficient intestinal absorption, bacterial overgrowth). In colon there are diverticula, intestinal constipation, and fecal incontinence. For the diagnosis of GIT involvement the following are useful: studies of digestive tract with contrast media, endoscopy of upper GIT; gastric emptying; pH metry; esophageal and rectal manometry, as well as test to investigate deficient intestinal absorption syndrome. The prokinetic are a cornerstone for the treatment of hypomotility of GIT, along with pump proton inhibitors for the esophageal alteration and antibiotics for bacterial overgrowth.
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PMID:[Systemic sclerosis and the gastrointestinal tract. Diagnostic and therapeutic approach]. 2179 84

A 53-year-old female presented with rheumatoid arthritis and osteoporosis. Additional conditions and symptoms included Raynaud syndrome, fatigue, irritable bowel syndrome associated constipation (IBS-C), gastroesophageal reflux (GERD), menopausal symptoms, chronic urinary tract and upper respiratory infections, and weight gain. She was taking Arthrotec (a combination of diclofenac and misoprostol - for pain and inflammation), Fosamax Plus D (alendronate with vitamin D3 - recently prescribed because of low bone density), and Catapres (clonidine - for menopausal symptoms). Against the advice of her rheumatologist, she had recently discontinued taking Plaquenil (hydroxychloroquine), methotrexate, and prednisone due to significant side effects. Lab tests to identify underlying imbalances and to direct treatment were ordered. Treatment included dietary, nutritional, hormonal, and mind/body support. After one year of therapy, the patient experienced improvement with all of her presenting conditions and symptoms, which enabled her to discontinue several medications. She became versed in identifying and avoiding the environmental triggers of her disease, including foods (dairy, wheat, eggs, and soy), molds, and emotional stress. Antinuclear antibodies were normalized. She experienced a 7.5-percent improvement in left trochanteric bone density - comparable to bisphosphonate therapy. Mild improvements were also noted in the spine and bilateral femoral neck.
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PMID:A case report of a 53-year-old female with rheumatoid arthritis and osteoporosis: focus on lab testing and CAM therapies. 2195 Oct 26

Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It forms a trans-synaptic complex in the central nervous system with neuroligin. There has been one case in the literature of a patient with a heterozygous deletion in NRXN1 on one allele and a nonsense mutation on the other allele, reported to have a Pitt Hopkins-like phenotype. We report on two daughters of healthy, nonconsanguineous, Caucasian parents with biallelic NRXN1 deletions identified by array CGH. The children presented with severe early onset epilepsy, profound developmental delay, gastroesophageal reflux disease, constipation, and early onset puberty. Our report confirms that biallelic NRXN1 mutations result in a severe recessive mental retardation syndrome and broadens the range of phenotypes associated with this gene.
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PMID:Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 2196 64

In an autoimmune disease, the immune system attacks and harms the body's own tissues. The systemic autoimmune diseases include collagen vascular diseases, the systemic vasculitides, Wegener granulomatosis, and Churg-Strauss syndrome. These disorders can involve any part of the gastrointestinal tract, hepatobiliary system and pancreas. They can cause a variety of gastrointestinal manifestations that are influenced by the pathophysiologic characteristics of the underlying disease process. There is a wide variation of gastrointestinal manifestations from these autoimmune disorders including, but not limited to: oral ulcers, dysphagia, gastroesophageal reflux disease, abdominal pain, constipation, diarrhea, fecal incontinence, pseudo-obstruction, perforation and gastrointestinal bleeding. Clinical workup should be initiated by the patient's subjective complaints. In this review, we analyze the effects of autoimmune diseases on the gastrointestinal tract.
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PMID:Gastrointestinal manifestations in systemic autoimmune diseases. 2197 90

Ketogenic diet (KD) is known to be effective in intractable epilepsy. However, the role of KD in refractory status epilepticus (RSE) has not been well described. The aim of this study is to explore the role of KD in patients with RSE. We retrospectively reviewed the medical records of four children and one adult with RSE between October 2006 and August 2010. All presented with status epilepticus (SE) that was presumed to be associated with viral encephalitis. After we failed to control the seizures with standard measures for SE, we tried KD. The overall seizure frequency decreased to <50% of baseline in median eight (1-19) days. At one month of KD, two patients were seizure-free, one patient showed >90% seizure reduction, and the others had >75% decrease without generalized seizures. With improvement in the RSE, we were able to taper the antiepileptic drugs (AEDs) and wean patients from prolonged mechanical ventilation. The adverse events of KD in RSE included aspiration pneumonia, gastroesophageal reflux, constipation, and hypertriglyceridemia. Those results demonstrate that KD can be a valuable therapeutic option for patients with RSE.
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PMID:The role of ketogenic diet in the treatment of refractory status epilepticus. 2200 21

Williams-Beuren syndrome is a multysistem genetic disorder caused by the 1.6Mb hemizygous deletion involving the elastin gene in the region q11.23 of chromosome 7. The phenotype of Williams-Beuren syndrome is extremelly variable but the most common findings include cardiovascular disease, distinctive facies, mental retardation, a specific congitive profile, endocrine abnormalities, growth retardation and connective tissue abnormalities. Although gastrointestinal difficulties are one of the most constant and prominent finding of the syndrome, including gastro-esophageal reflux (GER), poor suckling, vomiting, constipation, prolonged colic, rectal prolapse, inguinal, umbilical and hiatal hernia, there have been no reports of achalasia in association with Williams-Beuren syndrome in the literature. We present the case of a boy with Williams-Beuren syndrome, achalasia and recurrent postoperative stenosis of the cardia. After Heller myotomy, the boy developed severe restenosis of the cardia with abundant adhesions which repeated after every treatment, five times in periods shorter than one month. Eventually, he developed GER, errosive gastritis and hiatal hernia which led to severe malnutrition and failure to thrive. Although the genetic defect causing Williams-Beuren syndrome might not be the direct cause of achalasia we suggest that the frequent development of severe restenosis of cardia due to tight adhesions could be the consequence of elastin gene haploinsufficiency and altered structure and function of elastic fibers in esophageal connective tissue. This case highlights the importance of early diagnosis of esophageal motor disorders in childhood which should be included in the differential diagnosis when a child with Williams-Beuren syndrome presents with dysphagia and/or regurgitation.
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PMID:Recurrent achalasia in a child with Williams-Beuren syndrome. 2205 84

This review evaluates the current understanding of the benefits and risks of physical activity and exercise on the gastrointestinal system. A significant portion of endurance athletes are affected by gastrointestinal symptoms, but most symptoms are transient and do not have long-term consequences. Conversely, physical activity may have a protective effect on the gastrointestinal system. There is convincing evidence that physical activity reduces the risk of colon cancer. The evidence is less convincing for gastric and pancreatic cancers, gastroesophageal reflux disease, peptic ulcer disease, nonalcoholic fatty liver disease, cholelithiasis, diverticular disease, irritable bowel syndrome, and constipation. Physical activity may reduce the risk of gastrointestinal bleeding and inflammatory bowel disease, although this has not been proven unequivocally. This article provides a critical review of the evidence-based literature concerning exercise and physical activity effects on the gastrointestinal system and provides physicians with a better understanding of the evidence behind exercise prescriptions for patients with gastrointestinal disorders. Well-designed prospective randomized trials evaluating the risks and benefits of exercise and physical activity on gastrointestinal disorders are recommended for future research.
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PMID:Physical activity benefits and risks on the gastrointestinal system. 2208 64

Weight loss is a recognized alarm symptom for organic gastrointestinal (GI) disease, yet the association between obesity and specific GI symptoms remains poorly described. A meta-analysis was conducted to determine which GI symptoms predominate among obese individuals. A search of the literature using the databases MEDLINE, EMBASE PubMed and Current Contents (1950 - November 2011) was conducted. All studies assessing GI symptoms and increasing body mass index (BMI)/obesity were included. English and non-English articles were searched. A random effect model of the studies was undertaken. Overall, significant associations between GI symptoms and increasing BMI were found for upper abdominal pain (odds ratio [OR] = 2.65, 95% confidence interval [CI]: 1.23-5.72), gastroesophageal reflux (OR = 1.89, 95% CI: 1.70-2.09), diarrhoea (OR = 1.45, 95% CI: 1.26-1.64), chest pain/heartburn (OR = 1.74, 95% CI: 1.49-2.04), vomiting (OR = 1.76, 95% CI: 1.28-2.41), retching (OR = 1.33, 95% CI: 1.01-1.74) and incomplete evacuation (OR = 1.32, 95% CI: 1.03-1.71). However, no significant associations were found for all abdominal pain, lower abdominal pain, bloating, constipation/hard stools, fecal incontinence, nausea and anal blockage. Several key GI symptoms are associated with increasing BMI and obesity. In addition, there were a number of other GI symptoms that had no relationship with obesity. A greater knowledge of the GI symptoms associated with obesity along with the physiology will be important in the clinical management of these patients.
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PMID:Gastrointestinal symptoms and obesity: a meta-analysis. 2218 20


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