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Biomedical subjects

A Craft

Publications and source records attributed to A Craft.

29 records · Page 2Linked to original sources
PubMed1988

Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene.

Using molecular cloning, we earlier isolated the "retinoblastoma gene"; mutations or deletions at this locus are associated with the hereditary predisposition to some human cancers, especially retinoblastoma and osteosarcoma. To develop diagnostic tests for such a predisposition, we identified restriction-fragment-length polymorphisms (RFLPs) within the retinoblastoma gene and tested their usefulness in predicting the risk of cancer in 20 families with members who had hereditary retinoblastoma. We were able to make predictions in 19 of the 20 kindreds. In 18 kindreds, we demonstrated a consistent association of marker RFLPs with the mutation predisposing to retinoblastoma. In the 19th kindred, there may be a lack of cosegregation of the DNA polymorphisms within the gene and the site of the mutation predisposing to retinoblastoma. However, there is uncertainty about the clinical diagnosis of the retinal lesion in a key member of this kindred; if the lesion is not a retinoblastoma, there is no discrepancy between the DNA polymorphisms and the retinoblastoma trait. We conclude that it is feasible and clinically useful to use these DNA polymorphisms to determine the risk of cancer.

Alleles↗
PubMedDate not supplied

Nosocomial coagulase negative staphylococcal (CoNS) catheter-related sepsis in preterm infants: definition, diagnosis, prophylaxis, and prevention.

Nosocomial infections with coagulase negative staphylococcus (CoNS) are a frequent and significant cause of morbidity in the preterm infant. Infections diagnosed after the first 72 hours of life are arbitrarily deemed to be "nosocomial." There are many difficulties encountered in efforts to evaluate and compare nosocomial sepsis in the NICU. An issue of primary concern is the lack of uniformity in the definition of sepsis in the NICU. Based on the frequency of positive blood cultures in infants less than 1000 g, it appears reasonable to evaluate methods for the prevention of nosocomial sepsis. These include prophylactic antibiotic administration, antiseptic impregnated catheters, and the use of an antibiotic lock technique.

Antibiotic Prophylaxis↗
PubMedDate not supplied

Low-dose methotrexate in systemic onset juvenile chronic arthritis.

Twelve children with severe systemic juvenile chronic arthritis, all requiring high dose corticosteroids, have been admitted to a pilot study to evaluate the effect of low-dose methotrexate (mean dose: 8.5 mg/M2) on disease activity over a 6 month period. Definite improvement occurred in 4 children, allowing reduction of the steroid dose in 2 cases. Two children showed an acute flare of disease activity during the treatment period and in three, steroids had to be increased. Overall, side effects were rare with a rise in transaminases only occurring once. MTX blood levels taken on 14 occasions in 8 children documented absorption in all cases with a mean level of 3.45 x 10(-7) mol/l on a mean dose of 9 mg/M2. Low-dose MTX appears to be a safe drug in the short term treatment of severe systemic JCA with beneficial effect in about a third of patients. Long-term controlled trials will be needed to evaluate its role in the treatment of systemic disease as well as side effects.

Absorption↗
PubMedDate not supplied

A strategy for caring for families in bereavement.

This study, which is part of the Department of Health initiative examining care for children with life-threatening illnesses and their families, aimed to create a strategy for such care for families in the Northern Region. Current service provision tends to consider the family and child during the life of that child, but we were interested to learn also of parents' views of services provided and their expectations after the child had died. Our research showed that there was a considerable unmet need for support during the child's illness and immediately after the child's death as well as in the longer term. While such support was available through a children's hospice and for certain conditions, it was not so universally.

Adult↗