Literature DB >> 2039259

Genetic aspects of admissions to a paediatric intensive care unit.

D R FitzPatrick1, C H Skeoch, J L Tolmie.   

Abstract

Of 821 consecutive admissions to a paediatric intensive care unit, 47 (5.7%) were for chromosomal or monogenic disorders. These patients had more readmissions, longer mean stays, and a higher mortality rate than the group as a whole. In two of the four cases that died of single gene disorders, failure to store DNA made genetic counseling difficult.

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Year:  1991        PMID： 2039259      PMCID： PMC1792940          DOI： 10.1136/adc.66.5.639

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  3 in total

Review 1.  Investigation of inborn errors of metabolism in unexpected infant deaths.

Authors:  J L Emery; A J Howat; S Variend; G F Vawter
Journal:  Lancet       Date:  1988-07-02       Impact factor: 79.321

2.  Trends in the incidence of Reye's syndrome and the use of aspirin.

Authors:  J D Porter; P H Robinson; J F Glasgow; J H Banks; S M Hall
Journal:  Arch Dis Child       Date:  1990-08       Impact factor: 3.791

3.  The frequency and financial burden of genetic disease in a pediatric hospital.

Authors:  J G Hall; E K Powers; R T Mcllvaine; V H Ean
Journal:  Am J Med Genet       Date:  1978
  3 in total
  8 in total

Review 1.  Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.

Authors:  Laurie D Smith; Laurel K Willig; Stephen F Kingsmore
Journal:  Cold Spring Harb Perspect Med       Date:  2015-12-18       Impact factor: 6.915

2.  The impact of single gene and chromosomal disorders on hospital admissions in an adult population.

Authors:  Danielle E Dye; Kate J Brameld; Susannah Maxwell; Jack Goldblatt; Peter O'Leary
Journal:  J Community Genet       Date:  2011-03-02

3.  The burden of genetic disease on inpatient care in a children's hospital.

Authors:  Shawn E McCandless; Jeanne W Brunger; Suzanne B Cassidy
Journal:  Am J Hum Genet       Date:  2003-12-12       Impact factor: 11.025

Review 4.  Rapid whole genome sequencing and precision neonatology.

Authors:  Joshua E Petrikin; Laurel K Willig; Laurie D Smith; Stephen F Kingsmore
Journal:  Semin Perinatol       Date:  2015-10-29       Impact factor: 3.300

5.  A chromosomal deletion map of human malformations.

Authors:  C Brewer; S Holloway; P Zawalnyski; A Schinzel; D FitzPatrick
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

Review 6.  Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.

Authors:  Ahmad N Abou Tayoun; Bryan Krock; Nancy B Spinner
Journal:  Expert Rev Mol Diagn       Date:  2016-08-17       Impact factor: 5.225

7.  The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.

Authors:  Caroline E Walker; Trinity Mahede; Geoff Davis; Laura J Miller; Jennifer Girschik; Kate Brameld; Wenxing Sun; Ana Rath; Ségolène Aymé; Stephen R Zubrick; Gareth S Baynam; Caron Molster; Hugh J S Dawkins; Tarun S Weeramanthri
Journal:  Genet Med       Date:  2016-09-22       Impact factor: 8.822

8.  Healthcare trajectory of children with rare bone disease attending pediatric emergency departments.

Authors:  David Dawei Yang; Geneviève Baujat; Antoine Neuraz; Nicolas Garcelon; Claude Messiaen; Arnaud Sandrin; Gérard Cheron; Anita Burgun; Zagorka Pejin; Valérie Cormier-Daire; François Angoulvant
Journal:  Orphanet J Rare Dis       Date:  2020-01-03       Impact factor: 4.123
  8 in total

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