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Biomedical subjects

D Kennedy

Publications and source records attributed to D Kennedy.

At least 19 recordsLinked to original sources

The effect of pressure loading on the blood flow rate in human skin.

The effect of pressure on the blood flow in skin is of considerable clinical interest. Methods are described for the estimation of skin blood flow from the disappearance rate of an injection of 133Xe in saline. The flow rate may be monitored for a period long enough to establish the normal flow and the reduced flow resulting from a constant pressure load. Initial results indicate that the flow is reduced greatly by pressures up to 10 mmHg. This result is interpreted as a demonstration of an auto regulatory mechanism of skin blood flow. Above 30 mmHg the flow continues to decrease essentially to zero as systolic pressure is approached.

Journal Article↗

Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.

We describe two patients with Pallister-Hall syndrome (PHS), both with evidence of a generalized skeletal dysplasia as typified by upper and lower acromesomelic limb shortening and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia. Genomic DNA was only available for sequencing analysis in patient 2 and the mutation, c.3386_3387delTT was detected in exon 14 of the GL13 gene. It is also possible that the findings in patient 1 represent the phenotypic expression of a novel GLI3 mutation. This report further expands the PHS phenotype and raises the possibility of specific GLI3 mutations resulting in more severe skeletal features. It also suggests that PHS should be included in the differential diagnosis of antenatally ascertained acromesomelic limb shortening and bowing with fibular hypoplasia particularly in the presence of polysyndactyly.

Abnormalities, Multiple↗

A two-year prospective study of the health-related quality of life of children with chronic illness--the parents' perspective.

The aim of this study was to assess prospectively changes in the health-related quality of life (HRQL) of children and adolescents with diabetes, asthma or cystic fibrosis (CF). One hundred and twenty-two parents of children aged 10-16 years with asthma, diabetes, or CF were recruited from specialist paediatric clinics. Parents described their children's HRQL using the Child Health Questionnaire (PF98) at baseline, 6, 12, 18 and 24 months post-baseline. They reported that the general health of children with CF was significantly worse than that of children with asthma and diabetes at baseline. In other domains there were few differences between the HRQL of children in the three groups. In several domains, the HRQL of children with asthma or diabetes improved over the 2 years of the study. This improvement was less evident for children with CF.

Adolescent↗

Pregnancy outcome following exposure to permethrin and use of teratogen information.

NIX is a 1% permethrin creme rinse used for the treatment of head lice. There are no studies regarding human exposure during pregnancy. The primary objective of this study was to examine the safety of permethrin exposure during pregnancy. The secondary objective was to examine how teratogen information is perceived and used by women who requested information regarding this product. Women who had called the Motherisk and MotherSafe Programs to inquire about exposure to permethrin during pregnancy were followed-up to ascertain the outcome of their pregnancies. These women were compared with another group who had not been exposed to any known teratogenic drugs. Women who decided not to use permethrin were administered an additional questionnaire. We enrolled 147 women and completed outcomes on 113 pregnancies of women who had used permethrin some time during their pregnancy. There were 106 live births, six spontaneous abortions, one therapeutic abortion, and one major malformation in the women who used permethrin in the first trimester. The mean birthweight was 3540 +/- 492 g and the mean gestational age was 40 +/- 1 weeks. There were no statistically significant differences between the exposed and comparison groups in any of the pregnancy outcomes. Of the 34 women who chose not to use permethrin and who completed the additional questionnaire, 18 (52%) did not use permethrin because they did not feel the information was sufficiently reassuring. The results of this study suggest that the use of permethrin products during pregnancy appears to be relatively safe because there was no increase in the rates of major malformations. We also found that some women will not use a product during pregnancy unless they can receive a 100% guarantee that it will not harm their baby.

Abnormalities, Drug-Induced↗

Breast magnetic resonance imaging: an essential role in malignant axillary lymphadenopathy of unknown origin.

The aim of this retrospective case series was to assess the role of breast MRI in the investigation of "occult" malignancy, and the associated potential to influence patient management. Between January 2000 and March 2004, 18 patients, who presented with axillary lymphadenopathy, most likely due to "occult" breast cancer, were examined with MRI of the breast. The results showed 12 true positives, four true negatives, and two false positives. This gave an overall sensitivity of 85.7% and an overall accuracy of 86.7%. In those in whom malignancy was identified on MRI and subsequently proven histologically, 78% of these cancers were identified, and localized by preoperative MRI-guided sonography. In addition, 55% of these patients were eligible for conservative surgery. As such, MRI of the breast is highly sensitive for the detection of mammographically and clinically occult breast cancer. The use of MRI enables a preoperative diagnosis to be made in a high percentage of patients and may allow retrospective targeted ultrasound localization. Definitive surgical planning, including the option of breast conservation, is made possible with the result of the MRI examination.

Adenocarcinoma↗

Quality use of medicines in the rural ambulant elderly: a pilot study.

INTRODUCTION: Australia has a rapidly ageing population, especially in rural areas, and strategies to address medicines and the elderly are particularly relevant. The aims of this 18 month study, therefore, were to: (1) determine the influence of a medication review on the quality of life of elderly ambulatory patients managed by a general practitioner; and (2) assess the impact of the medication review process on health outcomes such as medication-related hospital admissions in ambulant elderly patients actively managed by their GP. METHODS: The study was conducted within the area serviced by the rural Riverina Division of General Practice, New South Wales, Australia. Patients were identified by clinical audit, and recruited to the study if they met the inclusion criteria of being: older than 65 years, ambulant, living independently and on five or more medications. The study sample consisted of 402 participants (156 men, 38.8%; 246 women, 61.2%). Fifty-eight participants withdrew from the study for a variety of reasons. A two-group (intervention, control) pre- and post-intervention randomized study design was utilized. Quality of life was assessed using SF-36. The medication history and clinical details of the 202 study participants were reviewed by the project pharmacist and their GP. Medication changes were suggested to patients by their GP and follow-up SF36 and review of hospitalisation episodes were conducted after 6 months. RESULTS: 3382 medications were identified as being taken, an average of 8.4 medications per patient. After the initial medication review, the study pharmacist suggested an alteration in dose, form or frequency for 687 medications in the intervention group. The GPs recommended an alteration in 243 of patient medications. Of the entire study population (n = 402), only two participants' admission to hospital was specifically attributed to medication-related issues. There were no significant differences between the quality of life assessments for the combined groups; however, the intervention group recorded significantly higher scores in two of the nine dimensions measured: vitality (p 0.009) and mental health (p 0.0001), at the post-intervention assessment. CONCLUSION: While the intervention did not reduce hospitalisation episodes and only led to a modest improvement in quality of life, the development of a mutually acceptable form of face-to-face pharmacist/GP medication review, identification of potentially serious adverse drug reactions, identification of previously unreported complementary medicine use, and enhanced GP awareness of the risks of polypharmacy were positive outcomes of the study.

Journal Article↗

Binge alcohol consumption by non-alcohol-dependent women during pregnancy affects child behaviour, but not general intellectual functioning; a prospective controlled study.

Effects of binge ethanol consumption during early gestation on child neurodevelopment have not been elucidated. To study whether binge drinking affects cognitive abilities and behavior of exposed children, a prospective observational study comparing 51 children exposed to binge drinking during the first trimester of pregnancy to 51 children not exposed to any teratogens was conducted. The children's physical development, intelligence, language abilities and behavior were assessed. Temperament test results showed that children exposed in utero to maternal binge drinking displayed a greater degree of disinhibited behavior and that this behavior was associated with early drinking variables. Although binge alcohol drinking by non-alcohol-dependent women during the first trimester of pregnancy does not appear to affect intelligence or cognitive and language development of young children, binge drinking in pregnancy does increase the likelihood of certain behavioral characteristics that might predispose these children to later behavioral dysfunction.

Adult↗

Cys-tRNACys formation and cysteine biosynthesis in methanogenic archaea: two faces of the same problem?

Aminoacyl-tRNA (transfer RNA) synthetases are essential components of the cellular translation machinery as they provide the ribosome with aminoacyl-tRNAs. Aminoacyl-tRNA synthesis is generally well understood. However, the mechanism of Cys-tRNACys formation in three methanogenic archaea ( Methanocaldococcus jannaschii, Methanothermobacter thermautotrophicus and Methanopyrus kandleri) is still unknown, since no recognizable gene for a canonical cysteinyl-tRNA synthetase could be identified in the genome sequences of these organisms. Here we review the different routes recently proposed for Cys-tRNACys formation and discuss its possible link with cysteine biosynthesis in these methanogenic archaea.

Archaea↗

Are sleep problems under-recognised in general practice?

AIMS: To evaluate the frequency of sleep problems in Australian children aged 4.5-16.5 years, and to determine whether the frequency of sleep problems on questionnaire predicts the reporting of sleep problems at consultation. METHODS: Parents of 361 children (aged 4.5-16.5 years) attending their general practitioner for "sick" visits were asked to assess their child's sleep over the previous six months using the Sleep Disturbance Scale for Children, from which six sleep "disorder" factors and a total sleep problem score were obtained. RESULTS: The percentage of children with a total sleep problem score indicative of clinical significance (T score >70 or >95th centile) was 24.6% (89/361). Despite this high frequency, parents only addressed sleep problems in 4.1% (13/317) of cases and reported that GPs discussed sleep problems in 7.9% (25/317) of cases. Of the 79 children who reported total sleep problem T scores in the clinical range, only 13.9% (11/79) discussed sleep with their general practitioner within the previous 12 months. Regression analyses revealed an age related decrease in problems with sleep-wake transition and sleep related obstructive breathing; sleep hyperhydrosis, initiating and maintaining sleep, and excessive daytime sleepiness did not significantly decrease with age. No significant gender differences were observed. CONCLUSIONS: Results suggest that chronic sleep problems in Australian children are significantly under-reported by parents during general practice consultations despite a relatively high frequency across all age groups. Given the impact on children and families, there is a need for increased awareness of children's sleep problems in the community and for these to be more actively addressed at consultation.

Adolescent↗

Dissociations of cerebral cortex, subcortical and cerebral white matter volumes in autistic boys.

High-functioning autistic and normal school-age boys were compared using a whole-brain morphometric profile that includes both total brain volume and volumes of all major brain regions. We performed MRI-based morphometric analysis on the brains of 17 autistic and 15 control subjects, all male with normal intelligence, aged 7-11 years. Clinical neuroradiologists judged the brains of all subjects to be clinically normal. The entire brain was segmented into cerebrum, cerebellum, brainstem and ventricles. The cerebrum was subdivided into cerebral cortex, cerebral white matter, hippocampus-amygdala, caudate nucleus, globus pallidus plus putamen, and diencephalon (thalamus plus ventral diencephalon). Volumes were derived for each region and compared between groups both before and after adjustment for variation in total brain volume. Factor analysis was then used to group brain regions based on their intercorrelations. Volumes were significantly different between groups overall; and diencephalon, cerebral white matter, cerebellum and globus pallidus-putamen were significantly larger in the autistic group. Brain volumes were not significantly different overall after adjustment for total brain size, but this analysis approached significance and effect sizes and univariate comparisons remained notable for three regions, although not all in the same direction: cerebral white matter showed a trend towards being disproportionately larger in autistic boys, while cerebral cortex and hippocampus-amygdala showed trends toward being disproportionately smaller. Factor analysis of all brain region volumes yielded three factors, with central white matter grouping alone, and with cerebral cortex and hippocampus-amygdala grouping separately from other grey matter regions. This morphometric profile of the autistic brain suggests that there is an overall increase in brain volumes compared with controls. Additionally, results suggest that there may be differential effects driving white matter to be larger and cerebral cortex and hippocampus-amygdala to be relatively smaller in the autistic than in the typically developing brain. The cause of this apparent dissociation of cerebral cortical regions from subcortical regions and of cortical white from grey matter is unknown, and merits further investigation.

Autistic Disorder↗