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)

The effects of different types of exercise on gastroesophageal reflux were evaluated during fasting and postprandially in 12 asymptomatic volunteers (7 men and 5 women; mean age, 28 years) using an ambulatory intraesophageal pH monitor. The 1-hour exercise period included stationary bicycling (aerobic exercise with little agitation of the body), running (aerobic exercise with a high degree of agitation of the body), and a weight routine (nonaerobic exercise). Each exercise was performed for 15 minutes with 5 minutes of rest between exercises. The weight routine consisted of five different exercises (sit-ups, bench press, sitting arm press, prone leg curls, and sitting leg press) chosen to compare upper-body vs lower-body exercise and supine vs upright position. Each exercise hour was preceded by a 1-hour baseline period on 2 days (fasting and postprandial). The results indicate that vigorous exercise can induce gastroesophageal reflux in normal subjects. Running induced the most reflux, and aerobic exercises with less bodily agitation (bicycle) produced less reflux and may offer an alternate form of exercise for patients with reflux. The weight routine induced gastroesophageal reflux in some subjects, although no particular exercise was associated with more reflux. Postprandial exercise showed a similar pattern of induced gastroesophageal reflux, although of greater amount.
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PMID:Gastroesophageal reflux induced by exercise in healthy volunteers. 272 5

Sepiapterin reductase (SR) catalyses the last step in the tetrahydrobiopterin biosynthesis pathway; it converts 6-pyruvoyl-tetrahydropterin (6-PTP) to BH(4) in an NADPH-dependent reaction. SR deficiency is a very rare autosomal recessive disorder with normal phenylalanine (Phe) concentration in blood and diagnostic abnormalities are detected in CSF. We present a 16-month-old girl with SR deficiency. From the newborn period she presented with an adaptation regulatory disorder. At the age of 3 months, abnormal eye movements with dystonic signs and at 4.5 months psychomotor retardation were noticed. Since that time axial hypotonia with limb spasticity (or rather delayed reflex development), gastro-oesophageal reflux and fatigue at the end of the day has been observed. Brain MRI was normal; EEG was without epileptiform discharges. Analysis of biogenic amine metabolites in CSF at the age of 16 months showed very low HVA and 5-HIAA concentrations. Analysis of CSF pterins revealed strongly elevated dihydrobiopterin (BH(2)), slightly elevated neopterin and elevated sepiapterin levels. Plasma and CSF amino acids concentrations were normal. A phenylalanine loading test showed increased Phe after 1 h, 2 h and 4 h and very high Phe/Tyr ratios. SR deficiency was confirmed in fibroblasts and a novel homozygous g.1330C>G (p.N127K) SPR mutation was identified. On L-dopa and then additionally 5-hydroxytryptophan, the girl showed slow but remarkable progress in motor and intellectual ability. Now, at the age of 3 years, she is able to sit; expressive speech is delayed (to 1 1/2 years), passive speech is well developed. Her visual-motor skills, eye-hand coordination and social development correspond to the age of 2 1/2 years.
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PMID:Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. 1913 Feb 91

A 10-month-old boy was seen for the first time for a health supervision visit by a pediatrician. A brief review of the child's medical history did not reveal any specific problems. On physical examination, the pediatrician found an alert, smiling child, but she was surprised by the following observations: unable to sit without support, absent pincer grasp, no audible language, unilateral exotropia, and microcephaly. Expansion of the medical history revealed an uneventful full-term prenatal course and normal vaginal delivery. The mother denied use of alcohol or other drugs/medications during the pregnancy. She did not have a recent history of any infections, unexplained fevers, or high risks for sexually transmitted disease. The baby cried spontaneously and the parents reported no resuscitation efforts. There were early feeding problems associated with a poor suck and gastroesophageal reflux. The parents were healthy and this was their first child. Family history was negative for early problems in child development or any neurological conditions. Parents were high school graduates without any learning problems; they were both employed in retail sales with a steady employment history. The pediatrician then took a second look at the child and discovered truncal hypotonia, extremity hypertonia, tongue protrusion, and a broad mouth. She concluded that the child had a global developmental delay, including delays in motor, language, and social development.
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PMID:Global developmental delay in a 10-month-old infant boy. 2041 75

The Rome IV Committee introduced a major change in the classification of functional gastrointestinal disorders, proposing a more restrictive definition of gastroesophageal reflux disease (GERD). It was suggested that hypersensitive esophagus (HE) may sit more firmly within the functional realm. It was suggested that GERD diagnosis should be based upon abnormal acid exposure time (AET) only, implying no advantage of impedance-pH over pH monitoring. Symptom association probability (SAP), symptom index (SI) and heartburn relief with proton pump inhibitor (PPI) therapy were regarded as unreliable, whereas a lack of response to PPI was considered as evidence of functional heartburn. These assumptions are contradicted by numerous studies showing the clinical relevance of weakly acidic refluxes and the diagnostic utility of SAP, SI and new impedance parameters, namely the post-reflux swallow-induced peristaltic wave (PSPW) index and the mean nocturnal baseline impedance (MNBI). The PSPW index and MNBI provide significant diagnostic advantage, particularly in patients with normal AET who can be classified as HE when both parameters are abnormal, even though SAP and SI are negative. Visceral pain modulators are recommended by the Rome IV Committee despite scanty evidence of efficacy, but a positive outcome with medical or surgical anti-reflux treatment has been reported by several studies of HE patients. Therefore, we believe that patients with endoscopy-negative heartburn should be investigated by means of impedance-pH monitoring with analysis of PSPW index and MNBI: such an approach provides accurate identification of HE cases, who remain, in our opinion, within the realm of GERD and should be treated accordingly.
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PMID:Critical appraisal of Rome IV criteria: hypersensitive esophagus does belong to gastroesophageal reflux disease spectrum. 2933 61