107 research outputs found
Twenty-five years since the Shearman Report: How far have we come? Are we there yet?
No full text© 2015 Published by Elsevier Australia. Background: In 1989, the first major state-wide report into maternity services, known as the Shearman Report after its author, was released in New South Wales, the most populous state in Australia. Aim: This paper reflects upon the report and tracks the progress of five of its key recommendations. The recommendations are still some of the major issues facing maternity services across the country. These are: community-based maternity care, rural maternity services, hospital visiting rights for privately practising midwives, obstetric intervention, and midwifery continuity of maternity care. Findings: In some ways, much has changed in 25 years including the terminology used in the report, the importance of midwifery continuity of care and the woman-centred nature of many services. However, in other ways, there is still a long way to go to address these major issues. Despite more than a quarter of a century, many recommendations have not been fulfilled, especially access to care in rural areas, rates of obstetric intervention, and the issue of visiting rights for privately practising midwives which has gone backwards. Conclusion: A continued and renewed effort is needed to ensure that the forward thinking recommendations of the Shearman Report are ultimately realised for all women and their families
The minerals ikaite and its pseudomorph glendonite:Historical perspective and legacies of Douglas Shearman and Alec K. Smith
No full textThis paper presents a historical perspective of the discovery of, and aspects of, glendonite and ikaite, through the legacy of British mineralogists Douglas Shearman and Alec K. Smith. Much of the knowledge, literature review and synthesis presented in the following paper raises from the original work and discussions that these two key figures in mineralogy shared with the geological community both in the form of their official communications but also as informal discussions with the first author. Through our extensive review, we show that, while the link between ikaite and glendonite is now undeniable, questions remain.</p
The molecular genetics of haemochromatosis
No full textHaemochromatosis is the most common single gene disorder to afflict North- West European populations. It is probably the most common genetic disorder of iron metabolism worldwide. As many as 1 in 250 people in the UK are affected and although the phenotype causes only a mild increase in gastrointestinal iron absorption a proportion of affected individuals will accumulate sufficient iron over their life-time to cause cirrhosis and hepatocellular carcinoma. Venesection treatment instituted before cirrhosis has established ensures a normal life expectancy, but clinical presentation is often late in life after irreversible organ injury has occurred. Identification of people at risk in the early, asymptomatic stage by measurements of iron status is unreliable.The genetic defect responsible for haemochromatosis has been sought in the hope that its identification might facilitate early diagnosis and that studies on the gene product would lead to a greater understanding of the mechanisms of mammalian iron absorption. Genetic linkage to HLA-A3 placed the gene responsible for haemchromatosis in, or close to, the major histocompatibilty complex (MHC) on the short arm of chromosome 6 and a positional cloning strategy has been adopted.This thesis describes work directed to the identification of the haemochromatosis gene by positional cloning. The region telomeric to the MHC was mapped using yeast artificial chromosomes, from which new microsatellites were isolated. These markers were used in linkage disequilibrium analyses and the mapping of a recombination breakpoint that defined a haemochromatosis gene region. This region was physically mapped in fine detail and positional candidates sought by EST database analysis.Before a systematic search for genes in the region began a strong positional candidate was reported (Feder et al 1996). Analysis of this mutation in patients from the UK confirmed this to be the ancestral haemochromatosis mutation
The effect of mild aerobic physical activity on serum lipid, lipoprotein, and apolipoprotein concentrations in sedentary middle aged males
No full textThe purpose of this study was to determine if mild aerobic physical activity effected specific serum lipid concentrations to a greater extent than other serum lipid concentrations. Forty sedentary, healthy adult males (mean age 43.4 years) were divided into an untrained and trained groups. The trained members underwent twelve weeks of mild aerobic physical activity to determine the effects of mild aerobic physical activity on serum cholesterol, triglyceride, lipoprotein, and apolipoprotein concentrations
Canine disease gene identification
No full textThe dog (Canis familiaris) was domesticated from wolves around 15,000 years ago in multiple locations in the northern hemisphere. Most modern dogs were developed from domestic dogs in the past 200 years in Europe. This breed development resulted in genetically isolated, highly inbred populations segregating diseases. Two autosomal recessive diseases are Trapped Neutrophil Syndrome (TNS) in Border collies and cerebellar abiotrophy in Australian Kelpies. TNS is an inherited neutropenia resulting in a compromised immune system. TNS was mapped to VPS13B using a candidate gene approach and linkage analysis. Sequencing of the gene in affected and control dogs identified a 4 bp deletion in exon 19 causing frame shift and premature truncation. Alternate transcripts of VPS13B are expressed in the brain of humans but not mice. Sequencing of cDNA from healthy dogs revealed that dogs also express alternate transcripts in the brain. Cerebellar abiotrophy in the Australian Kelpie results in an ataxia. Affymetrix SNP array v2 was used to perform whole genome mapping in twelve affecteds and twenty control Kelpies. Association analysis failed to identify the disease region. Homozygosity analysis identified a five megabase region where all affecteds were homozygous for a common haplotype. This region was enriched for two affecteds and one control using Nimblegen sequence capture arrays and sequenced on a 454 using titanium chemistry and multiplex identifiers. A total of 2019 differences were identified homozygous in the affecteds compared to controls, 682 of those were in genic regions,25 were in exons and 8 changed an amino acid
Instructions for recumbent or hospital treatment of acute gonorrhea in the male ...
No full textMode of access: Internet
Ep. 10.1 - Interview: Richard Hsu
No full textLisa Leong and her business partner, Tristan Forrester, escape Melbourne and travel to San Francisco, to record this special Future Law Podcast bonus episode. They track down Richard Hsu - the Managing Director of the Partner Practice Group of recruitment firm Major Lindsey & Africa. Richard is the host and producer of an ABA award winning podcast HsuUntied - and author of the LMA award winning blog HsuTube. Oh, and he was a lawyer! (Amongst other legal roles, he was an IP partner at Shearman & Stirling). Richard spoke about creativity, being trained as an Engineer - and how his HsuTube offering came to be..
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome
No full textAbstract Background Trapped Neutrophil Syndrome (TNS) is a common autosomal recessive neutropenia in Border collie dogs. Results We used a candidate gene approach and linkage analysis to show that the causative gene for TNS is VPS13B. We chose VPS13B as a candidate because of similarities in clinical signs between TNS and Cohen syndrome, in human, such as neutropenia and a typical facial dysmorphism. Linkage analysis using microsatellites close to VPS13B showed positive linkage of the region to TNS. We sequenced each of the 63 exons of VPS13B in affected and control dogs and found that the causative mutation in Border collies is a 4 bp deletion in exon 19 of the largest transcript that results in premature truncation of the protein. Cohen syndrome patients present with mental retardation in 99% of cases, but learning disabilities featured in less than half of TNS affected dogs. It has been implied that loss of the alternate transcript of VPS13B in the human brain utilising an alternate exon, 28, may cause mental retardation. Mice cannot be used to test this hypothesis as they do not express the alternate exon. We show that dogs do express alternate transcripts in the brain utilising an alternate exon homologous to human exon 28. Conclusion Dogs can be used as a model organism to explore the function of the alternately spliced transcript of VPS13B in the brain. TNS in Border collies is the first animal model for Cohen syndrome and can be used to study the disease aetiology.</p
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