Search

The leaching of per- and polyfluoroalkyl substances (PFASs) from Australian firefighting training grounds has resulted in extensive contamination of groundwater and nearby farmlands. Humans, farm animals, and wildlife in these areas may have been exposed to complex mixtures of PFASs from aqueous film-forming foams (AFFFs). This study aimed to identify PFAS classes in pooled whole blood ( n = 4) and serum ( n = 4) from cattle exposed to AFFF-impacted groundwater and potentially discover new PFASs in blood. Thirty PFASs were identified at various levels of confidence (levels 1a-5a), including three novel compounds: (i) perfluorohexanesulfonamido 2-hydroxypropanoic acid (FHxSA-HOPrA), (ii) methyl((perfluorohexyl)sulfonyl)sulfuramidous acid, and (iii) methyl((perfluorooctyl)sulfonyl)sulfuramidous acid, belonging to two different classes. Biotransformation intermediate, perfluorohexanesulfonamido propanoic acid (FHxSA-PrA), hitherto unreported in biological samples, was detected in both whole blood and serum. Furthermore, perfluoroalkyl sulfonamides, including perfluoropropane sulfonamide (FPrSA), perfluorobutane sulfonamide (FBSA), and perfluorohexane sulfonamide (FHxSA) were predominantly detected in whole blood, suggesting that these accumulate in the cell fraction of blood. The suspect screening revealed several fluoroalkyl chain-substituted PFAS. The results suggest that targeting only the major PFASs in the plasma or serum of AFFF-exposed mammals likely underestimates the toxicological risks associated with exposure. Future studies of AFFF-exposed populations should include whole-blood analysis with high-resolution mass spectrometry to understand the true extent of PFAS exposure.

Purpose: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease., Methods: We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia., Results: ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%)., Conclusion: In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.

Background: Strong associations between diet and maternal and child outcomes emphasise the importance of evidence-based care for women across preconception, antenatal and postnatal periods. A 2008 survey of Australian maternal health dietetic services documented critically low resourcing with considerable variation in staffing levels and models of care. This study repeated the survey to examine resourcing in Australian maternal health services., Methods: A cross-sectional online survey was emailed to publicly-funded Australian maternal health dietetic services in May 2018. Quantitative and qualitative variables collected across preconception to postnatal services (including diabetes) included; births per year (BPY), number of beds, staffing (full time equivalents; FTE), referral processes, and models of care. Results were collated in > 5000; 3500 and 5000; and < 3500 BPY., Results: Forty-three eligible surveys were received from seven states/territories. Dietetic staffing levels ranged from 0 to 4.0 FTE (> 5000 BPY), 0-2.8 FTE (3500-5000 BPY), and 0-2.0 FTE (< 3500 BPY). The offering of preconception, antenatal and postnatal services varied significantly between hospitals (format, staffing, referral processes, delivery models). Few sites reported service effectiveness monitoring and only one delivered gestational diabetes mellitus care according to nutrition practice guidelines. Low staffing levels and extensive service gaps, including lack of processes to deliver and evaluate services, were evident with major concerns expressed about the lack of capacity to provide evidence-based care., Conclusions: Ten years after the initial survey and recommendations there remains an identified role for dietitians to advocate for better staffing and for development, implementation, and evaluation of service models to influence maternal nutrition.

The content of an undergraduate curriculum is usually decided upon by the appropriate University Department. Such a Department is staffed exclusively by specialists in the field. The technique described in this paper is one which uses the perception of a wide variety of doctors, including specialists in the field, other specialists and general practitioners, to determine what should be taught to undergraduate students. The outcome of this study reveals that there is substantial agreement on what basic materials should be taught in an undergraduate curriculum in Ophthalmology. There is a substantial agreement throughout the profession on the basic required competencies in Ophthalmology, but it is clear that general practitioners are much more demanding in their requirements from the undergraduate curriculum than are specialists. Ophthalmologists are the least demanding of the undergraduate. The consensus technique described in this paper is a practical and formative method of obtaining valuable data for use in curriculum construction.