Paediatrics (RCH) - Research Publications

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    Diagnosis and treatment of lumbosacral discospondylitis in a calf.
    Muggli, E ; Schmid, T ; Hagen, R ; Schmid, B ; Nuss, K (Springer Science and Business Media LLC, 2011-09-13)
    BACKGROUND: The aim of this case report was to describe the clinical findings, treatment and outcome of lumbosacral discospondylitis in a calf. CASE PRESENTATION: A 5.5-month-old calf was presented with difficulty in rising, a stiff and slightly ataxic gait in the hind limbs and a shortened stride. The lumbosacral region was severely painful on palpation.Radiographic examination confirmed lumbosacral discospondylitis. Medical treatment with stall rest was instituted over six weeks. Radiographic and ultrasonographic follow-up examinations showed lysis of the endplates initially, then collapse of the intervertebral space at the lumbosacral junction and progressive sclerosis in the periphery of the lytic zones. Four weeks after institution of treatment, the calf could rise normally and the general condition gradually had returned to normal. The calf was discharged after 6 weeks and was sound at 3.5 months clinical and radiographic follow up examination. Thereafter, it was kept on alpine pastures without problems and was pregnant 1 year after the last examination. CONCLUSIONS: This report shows that recovery from lumbosacral discospondylitis is possible in heifers, provided that treatment is started before major neurologic deficits have developed and is continued for an extended period of time.
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    Psychosocial Characteristics and Obstetric Health of Women Attending a Specialist Substance Use Antenatal Clinic in a Large Metropolitan Hospital
    Burns, L ; Conroy, E ; Moore, EA ; Hutchinson, D ; Haber, PS (HINDAWI LTD, 2011)
    Objective. This paper reports the findings comparing the obstetrical health, antenatal care, and psychosocial characteristics of pregnant women with a known history of substance dependence (n = 41) and a comparison group of pregnant women attending a general antenatal clinic (n = 47). Method. Face-to-face interviews were used to assess obstetrical health, antenatal care, physical and mental functioning, substance use, and exposure to violence. Results. The substance-dependent group had more difficulty accessing antenatal care and reported more obstetrical health complications during pregnancy. Women in the substance-dependent group were more likely to report not wanting to become pregnant and were less likely to report using birth control at the time of conception. Conclusions. The profile of pregnant women (in specialised antenatal care for substance dependence) is one of severe disadvantage and poor health. The challenge is to develop and resource innovative and effective multisectoral systems to educate women and provide effective care for both women and infants.
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    Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
    Vissers, LELM ; Cox, TC ; Maga, AM ; Short, KM ; Wiradjaja, F ; Janssen, IM ; Jehee, F ; Bertola, D ; Liu, J ; Yagnik, G ; Sekiguchi, K ; Kiyozumi, D ; van Bokhoven, H ; Marcelis, C ; Cunningham, ML ; Anderson, PJ ; Boyadjiev, SA ; Passos-Bueno, MR ; Veltman, JA ; Smyth, I ; Buckley, MF ; Roscioli, T ; van Heyningen, V (Public Library of Science (PLoS), 2011-09)
    The premature fusion of the paired frontal bones results in metopic craniosynostosis (MC) and gives rise to the clinical phenotype of trigonocephaly. Deletions of chromosome 9p22.3 are well described as a cause of MC with variably penetrant midface hypoplasia. In order to identify the gene responsible for the trigonocephaly component of the 9p22.3 syndrome, a cohort of 109 patients were assessed by high-resolution arrays and MLPA for copy number variations (CNVs) involving 9p22. Five CNVs involving FREM1, all of which were de novo variants, were identified by array-based analyses. The remaining 104 patients with MC were then subjected to targeted FREM1 gene re-sequencing, which identified 3 further mutant alleles, one of which was de novo. Consistent with a pathogenic role, mouse Frem1 mRNA and protein expression was demonstrated in the metopic suture as well as in the pericranium and dura mater. Micro-computed tomography based analyses of the mouse posterior frontal (PF) suture, the human metopic suture equivalent, revealed advanced fusion in all mice homozygous for either of two different Frem1 mutant alleles, while heterozygotes exhibited variably penetrant PF suture anomalies. Gene dosage-related penetrance of midfacial hypoplasia was also evident in the Frem1 mutants. These data suggest that CNVs and mutations involving FREM1 can be identified in a significant percentage of people with MC with or without midface hypoplasia. Furthermore, we present Frem1 mutant mice as the first bona fide mouse model of human metopic craniosynostosis and a new model for midfacial hypoplasia.
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    Study protocol: the DESPATCH study: Delivering stroke prevention for patients with atrial fibrillation - a cluster randomised controlled trial in primary healthcare
    Gattellari, M ; Leung, DY ; Ukoumunne, OC ; Zwar, N ; Grimshaw, J ; Worthington, JM (BIOMED CENTRAL LTD, 2011-05-20)
    BACKGROUND: Compelling evidence shows that appropriate use of anticoagulation in patients with nonvalvular atrial fibrillation reduces the risk of ischaemic stroke by 67% and all-cause mortality by 26%. Despite this evidence, anticoagulation is substantially underused, resulting in avoidable fatal and disabling strokes. METHODS: DESPATCH is a cluster randomised controlled trial with concealed allocation and blinded outcome assessment designed to evaluate a multifaceted and tailored implementation strategy for improving the uptake of anticoagulation in primary care. We have recruited general practices in South Western Sydney, Australia, and randomly allocated practices to receive the DESPATCH intervention or evidence-based guidelines (control). The intervention comprises specialist decisional support via written feedback about patient-specific cases, three academic detailing sessions (delivered via telephone), practice resources, and evidence-based information. Data for outcome assessment will be obtained from a blinded, independent medical record audit. Our primary endpoint is the proportion of nonvalvular atrial fibrillation patients, over 65 years of age, receiving oral anticoagulation at any time during the 12-month posttest period. DISCUSSION: Successful translation of evidence into clinical practice can reduce avoidable stroke, death, and disability due to nonvalvular atrial fibrillation. If successful, DESPATCH will inform public policy, providing quality evidence for an effective implementation strategy to improve management of nonvalvular atrial fibrillation, to close an important evidence-practice gap. TRIAL REGISTRATION: Australia and New Zealand Clinical Trials Register (ANZCTR): ACTRN12608000074392.
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    Management of asthma in pregnant women by general practitioners: A cross sectional survey
    Lim, AS ; Stewart, K ; Abramson, MJ ; George, J (BMC, 2011-11-03)
    BACKGROUND: Poorly controlled asthma can lead to maternal and fetal complications. Despite the known risks of poorly controlled asthma during pregnancy and the need for stepping up therapy when appropriate, there are concerns that management is suboptimal in primary care.Our objective was to investigate the management of asthma during pregnancy by general practitioners providing shared maternity care. METHODS: A pre-piloted, anonymous mail survey was sent to all general practitioners (n = 842) involved in shared maternity care at six maternity hospitals in Victoria, Australia. Respondents were asked about their perceived safety of individual asthma medications during pregnancy. Approach to asthma management during pregnancy was further explored using scenarios of pregnant women with stable and deteriorating asthma and poor medication adherence. RESULTS: Inhaled corticosteroids (ICS) were perceived to be the safest and were the preferred preventive medication in first trimester (74.1%), whilst leukotriene receptor antagonists were the least preferred (2.9%). A quarter (25.8%) of respondents would stop or decrease patients' ICS doses during pregnancy, even when their asthma was well controlled by current therapy. In addition, 12.1% of respondents were not sure how to manage deteriorating asthma during pregnancy and opted to refer to another health professional. Almost half the respondents (48.9%) reported encountering medication nonadherence during pregnancy. CONCLUSION: A lack of confidence and/or knowledge among general practitioners in managing deteriorating asthma in pregnancy was observed despite a good understanding of the safety of asthma medications during pregnancy, compliance with evidence-based guidelines in the selection of preventive medications, and self reported good asthma knowledge.
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    Recombination Drives Genetic Diversification of Streptococcus dysgalactiae Subspecies equisimilis in a Region of Streptococcal Endemicity
    McMillan, DJ ; Kaul, SY ; Bramhachari, PV ; Smeesters, PR ; Vu, T ; Karmarkar, MG ; Shaila, MS ; Sriprakash, KS ; DeLeo, FR (PUBLIC LIBRARY SCIENCE, 2011-08-03)
    Infection of the skin or throat by Streptococcus dysgalactiae subspecies equisimilis (SDSE) may result in a number of human diseases. To understand mechanisms that give rise to new genetic variants in this species, we used multi-locus sequence typing (MLST) to characterise relationships in the SDSE population from India, a country where streptococcal disease is endemic. The study revealed Indian SDSE isolates have sequence types (STs) predominantly different to those reported from other regions of the world. Emm-ST combinations in India are also largely unique. Split decomposition analysis, the presence of emm-types in unrelated clonal complexes, and analysis of phylogenetic trees based on concatenated sequences all reveal an extensive history of recombination within the population. The ratio of recombination to mutation (r/m) events (11:1) and per site r/m ratio (41:1) in this population is twice as high as reported for SDSE from non-endemic regions. Recombination involving the emm-gene is also more frequent than recombination involving housekeeping genes, consistent with diversification of M proteins offering selective advantages to the pathogen. Our data demonstrate that genetic recombination in endemic regions is more frequent than non-endemic regions, and gives rise to novel local SDSE variants, some of which may have increased fitness or pathogenic potential.
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    Sequential multiplex PCR assay for determining capsular serotypes of colonizing S. pneumoniae
    Jourdain, S ; Dreze, P-A ; Vandeven, J ; Verhaegen, J ; Van Melderen, L ; Smeesters, PR (BMC, 2011-04-20)
    BACKGROUND: Asymptomatic nasopharyngeal carriage represents an important biological marker for monitoring pneumococcal serotype distribution and evaluating vaccine effects. Serotype determination by conventional method (Quellung reaction) is technically and financially challenging. On the contrary, PCR-based serotyping represents a simple, economic and promising alternative method. METHOD: We designed a novel multiplex PCR assay for specific detection of the 30 classical colonizing S. pneumoniae serogroups/types. This multiplex assay is composed of 7 consecutive PCR reactions and was validated on a large and recent collection of Streptococcus pneumoniae isolated during a prospective study conducted in Belgium at the time of PCV7 adoption. RESULTS: The multiplex PCR assay allowed the typing of more than 94% of the isolates of a collection of pneumococci isolated from Belgian preschool attendees (n = 332). Seventy-five percent of the isolates were typed after 3 subsequent PCR reactions. Results were in agreement with the Quellung identification. CONCLUSION: Our novel multiplex assay is an accurate and reliable method which can be used in place of the conventional method for S. pneumoniae carriage studies.
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    Histone deacetylase inhibition and dietary short-chain Fatty acids.
    Licciardi, PV ; Ververis, K ; Karagiannis, TC (Hindawi Limited, 2011)
    Changes in diet can also have dramatic effects on the composition of gut microbiota. Commensal bacteria of the gastrointestinal tract are critical regulators of health and disease by protecting against pathogen encounter whilst also maintaining immune tolerance to certain allergens. Moreover, consumption of fibre and vegetables typical of a non-Western diet generates substantial quantities of short-chain fatty acids (SCFAs) which have potent anti-inflammatory properties. Dietary interventions such as probiotic supplementation have been investigated for their pleiotropic effects on microbiota composition and immune function. Probiotics may restore intestinal dysbiosis and improve clinical disease through elevated SCFA levels in the intestine. Although the precise mechanisms by which such dietary factors mediate these effects, SCFA metabolites such as butyrate also function as histone deacetylase inhibitors (HDACi), that can act on the epigenome through chromatin remodeling changes. The aim of this review is to provide an overview of HDAC enzymes and to discuss the biological effects of HDACi. Further, we discuss the important relationship between diet and the balance between health and disease and how novel dietary interventions such as probiotics could be alternative approach for the prevention and/or treatment of chronic inflammatory disease through modulation of the intestinal microbiome.
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    An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C
    Algar, E ; Dagar, V ; Sebaj, M ; Pachter, N ; El-Maarri, O (PUBLIC LIBRARY SCIENCE, 2011-12-09)
    We report a three generation family with Beckwith Wiedemann syndrome (BWS) in whom we have identified a 330 kb deletion within the KCNQ1 locus, encompassing the 11p15.5 Imprinting Centre II (IC2). The deletion arose on the paternal chromosome in the first generation and was only associated with BWS when transmitted maternally to subsequent generations. The deletion on the maternal chromosome was associated with a lower median level of CDKN1C expression in the peripheral blood of affected individuals when compared to a cohort of unaffected controls (p<0.05), however was not significantly different to the expression levels in BWS cases with loss of methylation (LOM) within IC2 (p<0.78). Moreover the individual with a deletion on the paternal chromosome did not show evidence of elevated CDKN1C expression or features of Russell Silver syndrome. These observations support a model invoking the deletion of enhancer elements required for CDKN1C expression lying within or close to the imprinting centre and importantly extend and validate a single observation from an earlier study. Analysis of 94 cases with IC2 loss of methylation revealed that KCNQ1 deletion is a rare cause of loss of maternal methylation, occurring in only 3% of cases, or in 1.5% of BWS overall.
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    Childhood and adolescent predictors of leisure time physical activity during the transition from adolescence to adulthood: a population based cohort study
    Jose, KA ; Blizzard, L ; Dwyer, T ; McKercher, C ; Venn, AJ (BMC, 2011-06-01)
    BACKGROUND: Few studies have investigated factors that influence physical activity behavior during the transition from adolescence to adulthood. This study explores the associations of sociodemographic, behavioral, sociocultural, attitudinal and physical factors measured in childhood and adolescence with physical activity behavior during the transition from adolescence to adulthood. METHODS: Childhood and adolescent data (at ages 7-15 years) were collected as part of the 1985 Australian Health and Fitness Survey and subdivided into sociodemographics (socioeconomic status, parental education), behavioral (smoking, alcohol, sports diversity, outside school sports), sociocultural (active father, active mother, any older siblings, any younger siblings, language spoken at home), attitudinal (sports/recreational competency, self-rated health, enjoyment physical education/physical activity, not enjoying school sports) and physical (BMI, time taken to run 1.6 km, long jump) factors. Physical activity between the ages 15 and 29 years was reported retrospectively using the Historical Leisure Activity Questionnaire at follow-up in 2004-2006 by 2,048 participants in the Childhood Determinants of Adult Health Study (CDAH). Australia's physical activity recommendations for children and adults were used to categorize participants as persistently active, variably active or persistently inactive during the transition from adolescence to adulthood. RESULTS: For females, perceived sports competency in childhood and adolescence was significantly associated with being persistently active (RR=1.88, 95% CI=1.39, 2.55). Smoking (RR=0.31 CI=0.12, 0.82) and having younger siblings (RR=0.69 CI=0.52, 0.93) were inversely associated with being persistently active after taking physical and attitudinal factors into account. For males, playing sport outside school (RR=1.47 CI=1.05, 2.08), having active fathers (RR=1.25 CI=1.01, 1.54) and not enjoying school sport (RR=4.07 CI=2.31, 7.17) were associated with being persistently active into adulthood. Time taken to complete the 1.6 km run was inversely associated with being persistently active into adulthood (RR=0.85 CI=0.78, 0.93) after adjusting for recreational competency. CONCLUSIONS: Perceived sports competency (females) and cardiorespiratory fitness, playing sport outside school and having active fathers (males) in childhood and adolescence were positively associated with being persistently active during the transition from adolescence to adulthood.