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)

Present in 85-90% of patients, pancreatic exocrine insufficiency contributes to growth retardation and delayed puberty in the child, and low weight in the adult. The incidence of hepatic disease varies according to whether one considers the discovery of histological abnormalities at autopsy of patients who have died from other complications (20-70%) or the presence of a focal or multilobular biliary cirrhosis complicated or not by portal hypertension (2-10%). Gastro-oesophageal reflux can contribute to the degradation of the nutritional state and exacerbate the respiratory symptomatology. All deviations of anthropometric parameters (weight/height ratio, body mass index) from standard references are a warning sign and justify nutritional assistance, of which one distinguishes 3 successive stages by chronological order: fractionated oral supplementation, nasogastric enteral nutrition and parenteral nutrition.
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PMID:[Digestive diseases and nutrition in cystic fibrosis]. 1266 46

We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. Two patients in this series have had bladder carcinoma, the only malignancy reported to affect adults with Costello syndrome. Benign tumors included multiple ductal papillomata in two women, and a fourth ventricle mass in one man, thought to be a choroid plexus papilloma. Endocrine problems in this series were osteoporosis, central hypogonadism, and delayed puberty. Other health problems were symptomatic Chiari malformations in three patients. Four patients had adult-onset gastro-esophageal reflux, three of whom had Chiari malformations. Fourteen adults had mild to moderate intellectual disability with three individuals having severe intellectual disability; 15 individuals attained some reading and writing skills and 14 showed ongoing acquisition of new skills into adulthood. On the basis of this data, we recommend that neuro-imaging be considered in adults with Costello syndrome if they develop symptoms suggestive of a Chiari malformation. In the event of pubertal delay, endocrine investigations are indicated and hormone treatment may be required. Bone density assessments should be performed in adults with Costello syndrome, particularly in those with pubertal abnormalities. Screening for microscopic hematuria as a marker for bladder carcinoma may be indicated, although this requires further evaluation.
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PMID:The adult phenotype in Costello syndrome. 1594 Jul 3