Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malignant bowel obstruction (MBO) is commonly seen in patients with advanced abdominal cancers. The incidence of pediatric MBO in a patient with Burkitt's lymphoma and ataxia telangiectasia is rare, with no published case reports till now. Conservative management of inoperable MBO results in relief of symptoms and improves quality of life. An 11-year-old boy with Burkitt's lymphoma and ataxia telangiectasia was referred to pediatric palliative care with MBO. The objective of this report is to demonstrate conservative management of pediatric MBO using continuous ambulatory drug delivery system. The patient was initiated on continuous ambulatory drug delivery (CADD) system for symptom relief. MBO was reversed with conservative management and the child was discharged on self-collapsible portable elastomeric continuous infusion pump under the supervision of a local family physician. The child remained comfortable at home for 4 weeks until his death. His parents were satisfied with the child's symptom control, quality of life, and were able to care for the child at home. In a resource-limited setting, managing patients at home using elastomeric continuous infusion pumps instead of expensive automated CADD is a practical pharmacoeconomic approach.
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PMID:Medical Management of Pediatric Malignant Bowel Obstruction in a Patient with Burkitt's Lymphoma and Ataxia Telangiectasia Using Continuous Ambulatory Drug Delivery System. 2686 90

The expression of amino acid transporters in small intestine epithelia of human newborns has not been studied yet. It is further not known whether the maturation of imino acid (proline) transport is delayed as in the kidney proximal tubule. The possibility to obtain small intestinal tissue from patients undergoing surgery for jejunal or ileal atresia during their first days after birth was used to address these questions. As control, adult terminal ileum tissue was sampled during routine endoscopies. Gene expression of luminal imino and amino acid transporter SIT1 (SLC6A20) was approximately threefold lower in newborns versus adults. mRNA levels of all other luminal and basolateral amino acid transporters and accessory proteins tested were similar in newborn mucosa compared with adults. At the protein level, the major luminal neutral amino acid transporter B0AT1 (SLC6A19) and its accessory protein angiotensin-converting enzyme 2 were shown by immunofluorescence to be expressed similarly in newborns and in adults. SIT1 protein was not detectable in the small intestine of human newborns, in contrast to adults. The morphology of newborn intestinal mucosa proximal and distal to the obstruction was generally normal, but a decreased proliferation rate was visualized distally of the atresia by lower levels of the mitosis marker Ki-67. The mRNA level of the 13 tested amino acid transporters and accessory proteins was nonetheless similar, suggesting that the intestinal obstruction and interruption of amniotic fluid passage through the small intestinal lumen did not affect amino acid transporter expression. NEW & NOTEWORTHY System IMINO transporter SIT1 is not expressed in the small intestine of human newborns. This new finding resembles the situation in the proximal kidney tubule leading to iminoglycinuria. Lack of amniotic fluid passage in small intestinal atresia does not affect amino acid transporter expression distal to intestinal occlusion.
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PMID:Intestinal IMINO transporter SIT1 is not expressed in human newborns. 3016 Sep 74