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 frequency of proposed causes for the infant apnea syndrome (IAS) or "near miss" sudden infant death is unknown. Using a protocol, we investigated a small series of 28 consecutive infants with IAS. This in-hospital evaluation included, for all patients, blood chemistries; x-rays of skull, lumbar puncture, chest, and barium swallow; electrocardiogram, echocardiogram, 24-hour Holter cardiac monitor; viral and bacterial cultures of blood, urine, stool, and CSF; EEG; and esophageal pH study for gastroesophageal reflux (GER). A probable cause was found in 17 of the 28 infants including GER 6, encephalitis 4, convulsive disorder 3, periventricular edema 1, Arnold-Chiari malformation 1, milk allergy 1, periodic breathing 1. Home apnea monitors were used only by three, all of whom had no diagnosis and only these three had repeat apneic episodes. There have been no deaths during follow-up of 12 to 24 months. It is our conclusion that detailed evaluation of IAS often yields a specific diagnosis. The most valuable investigations were lumbar puncture, EEG, and esophageal pH studies.
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PMID:Infant apnea syndrome. A prospective evaluation of etiologies. 712 91

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 63-year-old woman presented with 24 hours of dysarthria, confusion, and appendicular ataxia preceded by watery diarrhea, without fever, nausea, vomiting, meningeal signs, recent travel, or antibiotic use. She had type II diabetes and gastroesophageal reflux disease (on proton pump inhibitor). She had consumed inadequately cooked beef stew left at room temperature for 24 hours. Blood cultures were positive for Salmonella typhimurium. CSF showed 15 nucleated cells, 72% monocytoid; remainder of CSF was normal. MRI was consistent with cerebellitis (figure). At 3 months, after 3 weeks of IV ceftriaxone, she remained dysarthric with bilateral dysmetria.
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PMID:Teaching NeuroImages: acute cerebellitis caused by Salmonella typhimurium. 2347 71