Examining area-level variation in service organisation and delivery across the breadth of primary healthcare. Usefulness of measures constructed from routine data.

BACKGROUND: Australia has a universal healthcare system, yet organisation and delivery of primary healthcare (PHC) services varies across local areas. Understanding the nature and extent of this variation is essential to improve quality of care and health equity, but this has been hampered by a lack of suitable measures across the breadth of effective PHC systems. Using a suite of measures constructed at the area-level, this study explored their application in assessing area-level variation in PHC organisation and delivery. METHODS: Routinely collected data from New South Wales, Australia were used to construct 13 small area-level measures of PHC service organisation and delivery that best approximated access (availability, affordability, accommodation) comprehensiveness and coordination. Regression analyses and pairwise Pearson's correlations were used to examine variation by area, and by remoteness and area disadvantage. RESULTS: PHC service delivery varied geographically at the small-area level-within cities and more remote locations. Areas in major cities were more accessible (all measures), while in remote areas, services were more comprehensive and coordinated. In disadvantaged areas of major cities, there were fewer GPs (most disadvantaged quintile 0.9[SD 0.1] vs least 1.0[SD 0.2]), services were more affordable (97.4%[1.6] bulk-billed vs 75.7[11.3]), a greater proportion were after-hours (10.3%[3.0] vs 6.2[2.9]) and for chronic disease care (28%[3.4] vs 17.6[8.0]) but fewer for preventive care (50.7%[3.8] had cervical screening vs 62.5[4.9]). Patterns were similar in regional locations, other than disadvantaged areas had less after-hours care (1.3%[0.7] vs 6.1%[3.9]). Measures were positively correlated, except GP supply and affordability in major cities (-0.41, p < .01). IMPLICATIONS: Application of constructed measures revealed inequity in PHC service delivery amenable to policy intervention. Initiatives should consider the maldistribution of GPs not only by remoteness but also by area disadvantage. Avenues for improvement in disadvantaged areas include preventative care across all regions and after-hours care in regional locations.

Research capacity training for surveillance and response in the Indo-Pacific: a case study of implementation.

SETTING: Surveillance and response workforce in the Indo-Pacific region, including Papua New Guinea (PNG), Solomon Islands, Fiji, Eastern Indonesia and Timor-Leste. OBJECTIVE: To evaluate the implementation of a modified WHO SORT IT research training programme which included a workplace-based research project. The training was designed for surveillance and response frontline workforce in the Indo-Pacific region. DESIGN: This was a programme evaluation using mixed methods. Fifty-three health and biosecurity workers from Fiji, Indonesia, PNG, Solomon Islands and Timor-Leste participated in the research training programme. RESULTS: Implementation of the programme was modified to reflect the context of participant countries. Work-place research projects focused on priority issues identified by local policy makers and in-country stakeholders. Self-reported research skills showed a significant increase (P < 0.01) after the completion of training. Participants reported high scores for satisfaction with training. CONCLUSIONS: This case study provides lessons learnt for future research training, and demonstrates that the SORT IT model can be modified to reflect the context of implementation without compromising purpose or outcomes.

CONTEXTE: Personnel de surveillance et d'intervention dans la région Indo-Pacifique incluant la Papouasie-Nouvelle-Guinée (PNG), les îles Salomon, les Fiji, l'Est de l'Indonesia et Timor-Leste. OBJECTIF: Évaluer la mise en œuvre d'un programme de formation modifiée WHO SORT-IT incluant un projet de recherche sur les lieux de travail. La formation était conçue pour le personnel de surveillance et d'intervention de première ligne dans la région Indo-Pacifique. SCHÉMA: Evaluation de programme utilisant des méthodes mixtes. Cinquante-trois travailleurs en matière de santé et de biosécurité venant des Fiji, d'Indonesie, de PNG, des îles Salomon et du Timor-Leste ont participé au programme de formation à la recherche. RÉSULTATS: La mise en œuvre du programme a été modifiée pour refléter le contexte des pays participants. Les projets de recherche sur les lieux de travail se sont focalisés sur les problèmes prioritaires identifiés par les responsables de la politique locale et les parties prenantes du pays. Les capacités de recherche rapportées par les participants ont montré une augmentation significative (P < 0,01) après la fin de la formation. Les participants ont exprimé de hauts scores de satisfaction à propos de la formation. CONCLUSION: Cette étude de cas fournit des leçons pour les formations en recherche à venir et démontré que le modèle SORT IT pouvait être modifié pour refléter le contexte de sa mise en œuvre sans compromettre le but ni les résultats.

Remote chemotherapy supervision model for rural cancer care: perspectives of health professionals.

Townsville Cancer Centre (TCC), a tertiary cancer centre in North Queensland, Australia, provides chemotherapy services to surrounding small rural towns using the Queensland Remote Chemotherapy Supervision model (QReCS). Under this model, selected chemotherapy regimens are administered in rural hospitals by rural based generalist doctors and nurses, under the supervision of TCC-based medical oncologists and chemotherapy competent nurses through videoconferencing. We sought to explore the perspectives of health professionals participating in QReCS. This qualitative study used semi-structured interviews with 19 participants, including nine nurses, eight doctors, one rural pharmacist and one administration officer. The interviews were recorded and transcribed. Transcripts were examined using iterative thematic analysis. Four major themes were identified from the data: (1) benefits of the model, (2) enablers of implementation, (3) operational requirements for optimal functioning and (4) disadvantages of the model. The reported benefits of the model were patient convenience, inter-professional communication across health district borders, expanded scope of practice, continuity of care and maintenance of patient safety and compliance with guidelines while delivering chemotherapy. Further improvements in the quality of training for rural nurses, coordination between urban and rural sites and between health professionals and documentation of clinical encounters would optimise the operation of the model. QReCS appears to provide many benefits to patients and health professionals and a framework for safe administration of chemotherapy in rural areas. Coordination of care, the quality of training for rural nurses as well as clinical documentation needs to improve to optimise the operation of the model.

Trisomies 18 and 13: trends in prevalence and prenatal diagnosis - population based study.

OBJECTIVE: The objective of this study was to determine trends in prenatal detection and current estimates of prevalence for trisomies 18 (T18) and 13 (T13) and their implications for screening policy. METHODS: We conducted a cohort study from a population-based regional anomaly register covering 995 003 births (1995-2009). RESULTS: There were 786 affected cases. Total prevalence of T18 increased from 3.95 in 1995-1999 to 6.94 per 10 000 births in 2005-2009 (annual trend χ(2) = 25.99, p < 0.001) and live birth prevalence, when adjusted for in utero attrition, increased from 1.47 to 2.30 per 10 000 births over the same time (annual trend χ(2) = 6.36, p = 0.01). For T18 and T13 combined, the proportion of cases diagnosed by prenatal karyotype or suspected by ultrasound increased from 85.1% (165/194) in 1995-1999 to 95.2% (299/314) in 2005-2009 (p < 0.001). In 2005-2009, 50.3% of prenatal cytogenetic diagnoses for T18 and 38.5% of T13 were made after the discovery of first trimester ultrasound anomalies, and the majority, 56.4% (185/328), of affected pregnancies were karyotyped or had ended before 18 weeks. CONCLUSION: T18 is increasing in prevalence because of maternal age and earlier surveillance. Prenatal diagnosis occurs mostly in the first trimester, without the intrinsic structures of a formal screening programme. These findings support the extension of first trimester combined screening to include T18 and T13.

Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trisomy 20 mosaicism confined to keratinocytes.

BACKGROUND: Hypomelanosis of Ito and linear and whorled hypermelanosis are pigmentary disorders that follow Blaschko's lines and are associated with cytogenetic mosaicism. However, mosaicism cannot always be shown using conventional karyotyping of blood lymphocytes or skin fibroblasts. This may be because these cell lines originate from mesoderm, whereas Blaschko's lines are an ectodermal phenomenon. OBJECTIVES: To investigate the diagnostic value of keratinocyte cytogenetics in patients with pigmentary mosaicism (PM). METHODS: We undertook a prospective study of 10 patients with clinically suspected PM. Previous karyotyping of blood, and in some cases skin fibroblasts, was normal in all cases. Keratinocytes and fibroblasts were cultured from skin biopsies taken from light and dark skin, and examined for cytogenetic abnormalities. RESULTS: In 9 of 10 cases both keratinocyte and fibroblast cytogenetic analyses were normal. The remaining patient showed trisomy 20 mosaicism confined to keratinocytes from hypopigmented skin. Fluorescent in situ hybridization using a probe for 20q confirmed trisomy 20 mosaicism in keratinocytes but not fibroblasts, with higher signal expression in hypopigmented compared with normal skin. CONCLUSIONS: In patients with clinically suspected PM but normal blood cytogenetics, keratinocytes may be more sensitive than skin fibroblasts in identifying cytogenetic mosaicism in selected patients. However, the additional diagnostic yield appears to be insufficient to justify routine keratinocyte cytogenetic investigation. Our findings indirectly support the hypothesis that Blaschko's lines delineate the embryonal migration paths taken by ectodermal cells including keratinocytes and melanocytes.

Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36.

Deletion of the distal end of the short arm of chromosome 1 (1p36) is thought to be a common terminal chromosomal deletion. However, few cases prospectively diagnosed prenatally have been reported. In this case, prenatal ultrasound at 21 weeks of gestation noted the fetus to have mild ventriculomegaly (Vhanterior = 11 mm and Vhposterior = 12 mm) and increased nuchal edema (6 mm). Maternal serum alpha-fetoprotein was normal unlike in a majority of previously described cases. The prenatal ultrasound features were further clarified with fetal MRI. Chromosome analysis following amniocentesis demonstrated a 1p36 deletion, which was confirmed by fluorescence in situ hybridization (FISH). The syndrome associated with 1p36 deletion is well described in infants and is characterized by typical facial features (prominent forehead, straight eyebrows. deep-set eyes, flat nasal bridge and a pointed chin). Other associated features are neurodevelopmental delay, seizures, cardiomyopathy and neurosensory hearing impairment. This case supplements our knowledge of the prenatal features of 1p36. Identification of this deletion by direct chromosomal analysis can be technically difficult and vigilance is required to improve diagnosis. FISH analysis is an important diagnostic adjunct where the diagnosis is suspected following classical G-banding techniques. However, in this chromosomal anomaly there remain few characteristic prenatal signs that are readily diagnosed with prenatal imaging.

Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS.

OBJECTIVES: QF-PCR analysis can be used as a rapid test to diagnose primary trisomy in prenatal samples. Mosaicism in CVS detected by QF-PCR has previously been reported; however, no case has so far been reported in which the QF-PCR result was completely discrepant to that of the karyotype analysis from a long-term culture. METHODS: A CVS, referred because of a high serum screening risk of 1:10 for Down Syndrome and 1:110 for Edwards Syndrome, was tested by QF-PCR analysis and chromosome analysis of cultured cells. Subsequent analyses were carried out on a follow-up amniotic fluid sample and foetal tissue samples. RESULTS: Conflicting results were obtained between QF-PCR analysis on two independent fronds from the chorionic villi and chromosome analysis on cultured CVS. Cytogenetic and molecular analysis on a subsequent amniotic fluid sample indicated trisomy 18 with no evidence of mosaicism. Analysis of follow-up tissue confirmed trisomy in a foetal skin sample and mosaicism for trisomy 18 in four placental sites tested. CONCLUSION: We report here an apparently normal CVS QF-PCR result that was completely discrepant with the trisomy 18 positive karyotype result on long-term culture. This has important implications regarding our current testing protocol.

Cervical smear participation and prevalence of sexually transmitted infections in women attending a community-controlled Indigenous health service in north Queensland.

OBJECTIVE: To increase Pap smear participation and to assess the prevalence of sexually transmitted infection (STI) in urban Indigenous women in Townsville. DESIGN: Convenience sample of women attending Townsville Aboriginal and Islanders Health Services (TAIHS) for health care participating in the Trichomonas vaginalis (TV) project, coordinated by an Aboriginal Health Worker (AHW) trained in women's health and cervical screening. PARTICIPANTS: 198 women, aged 20-69 years of age, attending TAIHS between March 2002 and 31 January 2004. MAIN OUTCOME MEASURES: Pap smear participation and prevalence of STIs. RESULTS: Pap smear participation among eligible women at TAIHS increased from 20.9% pre TV project to 28.6% during the project and 35.6% in the 12 months post completion of the TV project (p<0.0001), an increase of 70.3%. Of 196 smears performed during the study, 20 (10.6%, 95% CI 6.2-15) were abnormal; abnormality was more common in non-Indigenous 8/50 (16.0%) than in Indigenous women 12/139 (8.6%), but did not reach significance (p=0.180). The prevalence of Chlamydia trachomatis was low, with no differences between the Indigenous and non-Indigenous groups, and highest in younger women: 6/44 (13.6%) in women less than 25 years; Trichomonas vaginalis was more common in the Indigenous group. CONCLUSION: An AHW trained to perform and advocating for Pap smear participation has significantly increased the smear participation at TAIHS. The overall prevalence of STI was low.

Methamphetamine-dependent gay men's disclosure of their HIV status to sexual partners.

Disclosure of one's HIV status to a potential sexual partner has important HIV prevention implications. This paper qualitatively evaluates the social and sexual contexts that influence disclosure of HIV status among methamphetamine-dependent gay men enrolled in an outpatient drug treatment research program. As part of an open-ended, semi-structured interview, 34 HIV-positive and HIV-negative men discussed how, when, to whom and under what circumstances they reveal information about their HIV status. The four factors that influence participants' decision to disclose include: (1) an HIV-negative sexual partner's disclosure; (2) sexual venue (private versus public); (3) primary versus non-primary partner; and (4) the perceived risk of the sexual act. Sexual encounters among the men in this sample often occurred in public environments with non-primary partners, and involved use of illicit substances. In these social and sexual contexts, both HIV-positive and HIV-negative participants believed that it is HIV-negative rather than HIV-positive men who should initiate safer sex dialogue and safer sex practices. Findings are helpful in crafting HIV-prevention interventions targeting substance-using gay men whose sexual practices place them at high-risk for HIV-infection.

Methamphetamine abuse as a barrier to HIV medication adherence among gay and bisexual men.

Medication adherence among persons with HIV infection is important not only because of the effect of non-adherence on an individual's health but also because non-adherence can lead to medication-resistant viral strains. However, adherence to HIV medications is difficult due to complex dosing regimens and side effects. This paper is a qualitative analysis of HIV medication adherence among gay and bisexual methamphetamine-abusing men enrolled in an outpatient drug treatment research project. As part of an open-ended, semi-structured interview, 23 HIV-infected men discussed the effects of their methamphetamine use on their medication adherence. Substance-use barriers to adherence were coded into two main themes: (1) planned non-adherence and (2) unplanned non-adherence. Planned non-adherence was a strategy for coping with demanding HIV medication schedules, or was linked to sexual behaviours while using methamphetamine or to fears of interaction effects from mixing methamphetamine with HIV medications. Participants did not define their medication regimen adjustments as non-adherence but as a way to achieve a sense of control over their lives. Unplanned non-adherence was linked to methamphetamine-related disruptions in food and sleep schedules. Findings are helpful in designing culturally specific HIV medication adherence interventions for this population.

Mild developmental delay due to ring chromosome 19 mosaicism.

Children with mild developmental delay without dysmorphic features do not often have identifiable underlying aetiological factors. We report on a 5-year-old girl with mild developmental delay and dysmorphic features which were previously unrecognized. She was found to have supernumerary ring chromosome 19 mosaicism which was the likely cause of her clinical problems. Her parents' chromosomes were normal. A careful examination for dysmorphic features should be done in all children with developmental delay. However, these may not be readily apparent in babies and very young children. Chromosomal analysis to identify a genetic cause and to offer genetic counselling should be considered in all such children unless the clinician is absolutely certain that there are no dysmorphic features.

t(3;21) following peripheral blood stem cell transplantation in chronic phase chronic myeloid leukaemia.

A 40-year-old male with Ph-positive CML underwent PBSC autografting after initial treatment with hydroxyurea and interferon. Following autograft he remained in chronic phase with cytogenetic or molecular evidence of low levels of residual Ph-positive cells. However, additional cytogenetic abnormalities, including t(3;21) typically seen in therapy-related myelodysplastic syndrome (MDS) and AML and blast crisis of CML, developed as an independent cell line following the autograft. More than 4 years after the autograft, the patient remains in chronic phase with no evidence of accelerated phase or blast crisis of CML, but with a concurrent MDS. We report a case of CML who developed therapy-related MDS following PBSC autograft while still remaining in chronic phase.

Epidermal mosaicism and Blaschko's lines.

To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocytes; furthermore, the abnormal cell line was confirmed to the hypopigmented epidermis and the normal epidermis contained only normal cells. Negative findings in the other two patients might be because of mosaicism which was undetected either because it was submicroscopic or because it was present in melanocytes, which have not yet been studied. These preliminary results support the ideas that (1) Blaschko's lines represent single clones of epidermal cells; (2) in patients with HI and severe neurological involvement mosaicism, if detectable, is best shown in keratinocytes; and (3) the cytogenetic defect in epidermal cells may be directly responsible for the failure of pigmentation in HI.

Defective erythropoiesis in primary myelofibrosis associated with a chromosome 11 abnormality.

A case of primary myelofibrosis was identified with a previously unreported complex karyotype with two abnormal clones in addition to a proportion of normal cells: 46,XY,-2,-11, + der(2)t(2;11) (q24/31;q13), + mar and 45,XY,-2,-11, + der(2)t(2;11)(q24/31;q13), + mar, -17, del(7q). Study of circulating committed progenitors from this patient consistently showed (1) an absence of erythroid progenitors which is uncommon and (2) greatly increased granulocyte-monocyte progenitors (CFU-GM) which is generally observed in myelofibrosis. Further study showed that peripheral blood mononuclear cells co-cultured with irradiated normal bone marrow stroma generated increased numbers of CFU-GM compared with controls but failed to generate erythroid progenitors, providing evidence for an intrinsic defect in erythropoiesis. Only once previously has the absence of erythroid progenitors in primary myelofibrosis been studied in relation to cytogenetic abnormalities. This case also revealed a complex karyotype which, however, shared with our case a defect on chromosome 11. The identification of two cases of primary myelofibrosis which lack committed erythroid progenitor cells and which show in common a chromosomal defect on chromosome 11 point to the existence of genes on this chromosome which play a key role during erythropoiesis.

Two new IgA1-kappa plasma cell leukaemia cell lines (JJN-1 & JJN-2) which proliferate in response to B cell stimulatory factor 2.

Two new cell lines with the phenotype of terminally differentiated B cells have been derived from the presentation bone marrow of a patient with plasma cell leukaemia. They express the same immunoglobulin (A1-kappa) as the original bone marrow cells. JJN-1 is an hypodiploid, slow-growing line with a plasmacytic morphology, which grows in medium with 15-20% fetal calf serum. When JJN-1 was stimulated with a supernatant ('ESG') containing B cell stimulatory factor 2 (BSF-2/IL-6), a hypotetraploid sub-line, JJN-2, was selectively stimulated. JJN-2 is dependent on ESG for survival. The stimulatory effect of ESG can be completely abrogated by an anti-BSF-2 monoclonal antibody. However, purified BSF-2 alone only produces sub-maximal stimulation of the lines. Both lines show complex karyotypic abnormalities, including 14q- and del(6q). JJN-1 and JJN-2 may be useful for the study of late B cell differentiation and for use as immunogens for the generation of anti-plasma cell monoclonal antibodies.

Are double translocations double trouble?

Double translocation heterozygotes are rare, but need not necessarily pose more of a counselling problem than single reciprocal translocation heterozygotes. Nine cases of double translocation are presented, together with a review of the few reports published to date. An attempt is made to provide simple counselling guidelines in the assessment of the risk of producing a liveborn abnormal child. This is not based on theoretical considerations of segregation patterns, but extrapolated from what is known empirically about the viable segregation patterns in carriers of single reciprocal translocations. It assumes that there is no interference with the independent assortment of the two separate exchanges, unless a common participating chromosome is involved. The possibility of an interchromosomal effect has not been taken into consideration.