Australian children living with rare diseases: health service use and barriers to accessing care.

Background: Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.

Methods: Parents completed an online survey on health professional and emergency department (ED) presentations, hospitalization, and barriers to accessing services.

Health-related out-of-pocket expenses for children living with rare diseases - tuberous sclerosis and mitochondrial disorders: A prospective pilot study in Australian families.

Aim: We aimed to describe health-related out-of-pocket (OOP) expenses incurred by Australian families living with children with chronic and complex diseases.

Methods: A prospective pilot study of OOP expenses in families with children with tuberous sclerosis (TS) or mitochondrial disorders (MD) in 2016-2017. An initial survey assessed the family's financial situation, child's health functioning and estimated previous 6 months' and lifetime OOP expenses.

Integrated prevention and management of non-communicable diseases, including musculoskeletal health: a systematic policy analysis among OECD countries.

Introduction: Development and implementation of appropriate health policy is essential to address the rising global burden of non-communicable diseases (NCDs). The aim of this study was to evaluate existing health policies for integrated prevention/management of NCDs among Member States of the Organisation for Economic Co-operation and Development (OECD). We sought to describe policies' aims and strategies to achieve those aims, and evaluate extent of integration of musculoskeletal conditions as a leading cause of global morbidity.

Significant reductions in tertiary hospital encounters and less travel for families after implementation of Paediatric Care Coordination in Australia.

Background: Over a third of Australian children have long-term health conditions, often involving multiple organ systems and resulting in complex health care needs. Our healthcare system struggles to meet their needs because of sectoral fragmentation and episodic models of care. Children with medical complexity (CMC) currently rely on tertiary paediatric hospitals for most of their healthcare, but this is not sustainable.

Australian Paediatric Surveillance Unit Annual Report, 2016.

This report summarises the cases reported to the Australian Paediatric Surveillance Unit (APSU) of rare infectious diseases or rare complications of more common infectious diseases in children. During the calendar year 2016, there were approximately 1500 paediatricians reporting to the APSU and the monthly report card return rate was 90%. APSU continued to provide unique national data on the perinatal exposure to HIV, congenital rubella, congenital cytomegalovirus, neonatal and infant herpes simplex virus, and congenital and neonatal varicella.

Rare disease: a national survey of paediatricians' experiences and needs.

Objective: To describe the experiences of Australian paediatricians while caring for children with rare diseases, and their educational and resource needs.

Design: A brief online survey was developed and deployed to a representative sample of 679 paediatricians from the Australian Paediatric Surveillance Unit database.

Results: Of the 679 paediatricians, 242 (36%) completed the survey.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Background: Children and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare disease diagnosis. Systematically collected Australian data to support policy response on rare diseases are scarce.

Female genital mutilation in children presenting to Australian paediatricians.

Objective: The WHO reports that female genital mutilation/cutting (FGM/C) is an ancient cultural practice prevalent in many countries. FGM/C has been reported among women resident in Australia. Our paper provides the first description of FGM/C in Australian children.

Childhood interstitial lung disease: A systematic review.

Objectives: Childhood interstitial lung disease (chILD) is a group of rare chronic and complex disorders of variable pathology. There has been no systematic review of published chILD research. This study aimed to describe chILD classification systems, epidemiology, morbidity, treatments, outcomes, and the impact of chILD on families and the burden on health services.

Australian Paediatric Surveillance Unit annual report, 2013.

This report provides an update on the surveillance conducted by the Australian Paediatric Surveillance Unit (APSU) during the period January to December 2013. The APSU facilitates national active surveillance of uncommon diseases of childhood including selected communicable diseases. This report includes data on the following conditions: acute flaccid paralysis (AFP), congenital cytomegalovirus (cCMV), congenital rubella, perinatal exposure to HIV and paediatric HIV infection, neonatal herpes simplex virus (HSV), congenital varicella, neonatal varicella, severe complications of varicella and juvenile onset recurrent respiratory papillomatosis (JoRRP).

Risk factors for bronchial hyperresponsiveness in teenagers differ with sex and atopic status.

Background: Sex-related differences in bronchial hyperresponsiveness (BHR) have been reported in adolescents, but the mechanisms remain obscure.

Objective: To investigate the risk factors for BHR in the Raine Study, a community-based longitudinal birth cohort.

Methods: At 14 years of age, children underwent a respiratory assessment including a questionnaire, lung function testing, methacholine challenge, and determination of atopic status.

Elucidation of asthma phenotypes in atopic teenagers through parallel immunophenotypic and clinical profiling.

Background: Current treatment strategies for asthma in teenagers derive primarily from information on chronic disease in adults. More detailed understanding of risk factors related to teenage asthma might aid in the development of improved preventive and treatment strategies for this age group.

Objective: We sought to identify biomarkers associated with asthma phenotypes in teenagers, particularly atopic asthma, and to identify markers that aid in discriminating between atopic subjects at high versus low risk of asthma.

Diffusion of local restaurant smoking regulations in Massachusetts: identifying disparities in health protection for population subgroups.

Objectives: The objectives of this study were to examine the diffusion of smoke-free restaurant regulations and identify socioeconomic and racial/ethnic disparities in health protection from secondhand smoke exposure in restaurants.

Methods: We examined the relationship between adoption of local smoking regulations by restaurants for each of the 351 cities and towns in Massachusetts and a number of individual variables over nine time points, starting when there were no 100% smoke-free restaurant regulations and ending with the eventual imposition of the statewide ban on smoking in restaurants and bars.

Results: We found that over the 10 years before the statewide ban went into effect, only 36 percent of the total population was covered by local regulations that protected them from secondhand smoke exposure in restaurants.

Three-dimensional reconstruction of non-Hodgkin's lymphoma in bone marrow trephines.

The objective of this study was to analyse the location in the bone marrow of deposits of low-grade non-Hodgkin's lymphoma. This was achieved using computer-generated three-dimensional reconstruction techniques applied to serial tissue sections of five bone marrow trephines involved by lymphoma. For comparative purposes, previously published three-dimensional models of benign lymphoid aggregates in the bone marrow were need.

Lymphoid infiltrates in B cell non Hodgkin's lymphoma: comparing nuclear characteristics between lymph node and bone marrow; and evaluating diagnostic features of bone marrow infiltrates in paraffin embedded tissues.

Distinguishing non Hodgkin's lymphoma from benign lymphoid aggregates in bone marrow is well recognised to be difficult. Our objective was to evaluate nuclear morphology, and to perform morphometry on benign and neoplastic lymphoid infiltrates, to establish if objective criteria were of value in the diagnosis of neoplasia. By comparing neoplastic infiltrates in bone marrow with infiltrates in lymph nodes, the validity of grading non Hodgkin's lymphoma on the basis of bone marrow histology alone was assessed.

Standardized mitotic counts in breast cancer. Evaluation of the method.

Twenty-one pathologists and technicians participated in a study evaluating the variation present in mitotic counts for prognostication of breast cancer. The participants counted the mitotic figures in 20 breast cancer samples from ten high power fields (mitotic activity index, MAI, giving the results in mitotic figures per 10 fields) and also made a correction for field size and area fraction of the neoplastic epithelium to get the standardized mitotic index (volume fraction corrected mitotic index, or M/VV index, giving the result in mitotic figures per square mm of neoplastic epithelium). The difference in variation between the two methods was not big, but the standardized mitotic index (SMI) showed consistently smaller variation among all participants and different subgroups.

Three-dimensional reconstruction of benign lymphoid aggregates in bone marrow trephines.

Distinguishing between deposits of low-grade non-Hodgkin's lymphoma and benign lymphoid aggregates in bone marrow trephine sections is a recognized problem in haematopathology. To test the hypothesis that benign lymphoid aggregates do not make contact with a trabecular surface, three-dimensional models were constructed of five serially sectioned bone marrow trephines, containing a total of 19 lymphoid aggregates known to be benign. The computer-generated images showed that benign lymphoid aggregates were located in the central marrow space and did not become paratrabecular.

Distribution of alveolar wall per unit volume in the human lung.

Firstly, to assess the reproducibility of a computerised image analysis method of measuring alveolar size in terms of the alveolar wall surface area per unit volume (AWUV) in normal non-smoking adult human lungs fixed in inflation, one lung was fixed by simple manual prebronchial perfusion with formaldehyde (wet-fix), another by prolonged perfusion with formaldehyde followed by air until semi-dried (semi-dry). Blocks from both lungs were taken to assess the relative value of plastic and paraffin wax embedding. There was no statistical difference in AWUV between plastic and paraffin sections from each lung, but the wet-fix method gave statistically significantly (P < 0.

Three-dimensional reconstruction of human embryonic notochords: clue to the pathogenesis of chordoma.

Three-dimensional reconstruction experiments performed on serial sections of human embryos showed that the anatomy of the caudal and rostral ends of the notochord was complex. Forking of the ends, with separate fragments of chordal tissue, was demonstrated and these provide a way by which notochordal cell rests could be left behind in the basicranial and sacral regions when the notochord involutes elsewhere. Assuming the histogenesis of chordomas from notochordal cell rests, this would furnish an explanation for the observed skeletal distribution of chordomas.