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Biomedical subjects

K Hodgkinson

Publications and source records attributed to K Hodgkinson.

9 recordsLinked to original sources

Prenatal diagnosis and fetopathological findings in five fetuses with trisomy 9.

Five male fetuses with trisomy 9 are discussed. Three were detected prenatally and terminated, 1 aborted spontaneously, and the fifth delivered prematurely and died soon after. Multiple congenital abnormalities characteristic of trisomy 9 were detected in all 5 cases and are compared to those of previous reports.

Abnormalities, Multiple

Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

Brothers are reported with an apparently new constellation of manifestations including Dandy-Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X-linked recessive. An extensive review of the differential diagnosis of DWC is provided.

Adult

Molecular genetics in the National Health Service in Britain.

A recent report from the Departments of Health draws attention to the value of DNA diagnosis for inherited diseases and the need for planning these services in the National Health Service. There is great potential for preventive medicine, but a major immediate benefit is the newfound ability to exclude the carrier state in many people at risk and to protect fetuses from abortion when, as in most cases, they are shown to be normal by DNA tests. However, the widespread application of these new techniques requires prior evaluation and general acceptance. This will only be obtained after public debate, education of professionals and the population, and the establishment of adequate non-directive genetic counselling services. Some of the points to be considered in setting up molecular genetics laboratories are described.

Cystic Fibrosis

Measuring pain in neonates: evaluating an instrument and developing a common language.

This paper describes the development and evaluation of the Pain Assessment Tool (PAT), a scoring system that was developed by a group of neonatal nurses to assess neonates' pain. To test the practical application of the tool and to compare the scoring system with nurses' subjective pain assessments, a pilot study was conducted with a sample of 20 neonates during the 24 hours following their surgery. The study found that PAT effectively quantified neonates' pain and that PAT scores reflected nurses' perceptions of the pain experienced by neonates. Based on the PAT scores, 15 babies experienced discomfort that required nursing comfort measures and eight babies needed both comfort measures and analgesia to relieve pain. Recommendations for future use of the Pain Assessment Tool are discussed.

Clinical Nursing Research