Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A small, extra chromosome segment added to 1p was found by Q-banding 16 years ago in a newborn baby with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. This chromosome abnormality has been characterized recently with G-banding and fluorescence in situ hybridization using multiple DNA probes. The karyotype is now described as 46,XY, der(1)(qter-->p36.13::q42.3-->qter), representing a small deletion of 1p36.13-pter and a small duplication of 1q42.3-qter. Re-examination of this patient at age 16 years showed marked psychomotor delay, severely accentuated dorsal kyphosis and scoliosis, pectus excavatum, and other anomalies but no clinical signs of neuroblastoma. Comparison of the clinical findings in this case with those described in the patients having either a deletion of 1p36-pter or a duplication of 1q42-qter further illustrated the complexity of the genotype-phenotype relationship.
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PMID:Small terminal deletion of 1p and duplication of 1q: cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years. 1044 45

The aims of this study were to determine the normal values of plasma diamine oxidase (pDAO) activity in children and to examine the influence of several factors (nutritional management, dietary fiber, and chemotherapy) on pDAO activity. The activity of pDAO was measured in 138 healthy children with minor surgical conditions such as inguinal hernia or undescended testis. In order to define normal values patients were subdivided into 5 groups according to age. Next, changes in pDAO activity under different nutritional conditions were studied in 14 patients with adhesive ileus. The influence of chemotherapeutic drugs on pDAO activity was also studied in 19 neuroblastoma patients. I. The normal values of pDAO activity at year < 1, 1 < or = years < 3, 3 < or = years < 6.6 < or = years < 12, 12 < or = years were 6.65 +/- 1.75, 7.70 +/- 2.29, 6.53 +/- 1.68, 5.85 +/- 1.87, 5.06 +/- 1.84 units/l, respectively. II. The pDAO activities in patients with ileus were 4.73 +/- 1.02 (total parenteral nutrition), 6.84 +/- 1.18 (enteral, nutrition), 7.62 +/- 0.67 (soluble dietary fiber added enteral nutrition) and 8.82 +/- 1.26 units/l (oral feeding). The difference in pDAO activity at enteral or oral feeding vs. total parenteral nutrition was significant (p < .0001). III. The pDAO activity decreased significantly and remained low during the first 4 days after cyclophosphamide administration in neuroblastoma patients. The preadministration of dietary fiber inhibited the influence of cyclophosphamide. Plasma DAO activity was greatly influenced by nutritional management and administration of dietary fiber and/or cyclophosphamide. Plasma DAO activity may be a sensitive marker of intestinal function in children.
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PMID:Clinical significance of plasma diamine oxidase activity in pediatric patients: influence of nutritional therapy and chemotherapy. 1476 75

We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, micrognathia, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis. In the follow-up he presented a retroperitoneal neuroblastoma. Although this type of tumor has been referred to develop in several genetic and mutimalformative syndromes, it seems that present association has not been previously reported.
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PMID:Neuroblastoma in a patient with Coffin-Siris syndrome. 1984 70