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European and Australian guidelines for cystic fibrosis (CF) reproductive carrier screening recommend testing a small number of high frequency CF causing variants, rather than comprehensive CFTR sequencing. The study objective was to determine variant detection rates of commercially available targeted reproductive carrier screening tests in Australia.Next-generation DNA sequencing of the CFTR gene was performed on 2552 individuals from a whole population sample to identify CF causing variants. The variant detection rates of two commercially available Australian reproductive carrier screening tests, which target 50 or 175 CF causing variants, in this population were calculated. The ethnicity of individuals was determined using principal component analysis.Variant detection rates of the tests for 50 and 175 CF causing variants were 88.2% and 90.8%, respectively. No CF causing variants in individuals of East Asian ethnicity (n = 3) were detected by either test, while86.6% (n = 69) of CF causing variants in Europeans would be identified by either test.Reproductive carrier screening tests for a targeted set of high frequency CF variants are unable to detect approximately 10% of CF variants in a multiethnic Australian population, and individuals of East Asian ethnicity are disproportionally affected by this test limitation.

Venous leg ulcers (VLUs) are a common chronic often undertreated condition, which affects individual's health-related quality of life (HRQoL). Numerous patient-reported outcome measures (PROMs) have been validated to capture HRQoL in patients with VLUs. However, available instruments contain many items, are hard to use in clinical practice, and present with weak responsiveness. This study aims to determine clinical utility of an existing VLU-QoL instrument and to develop a comprehensive PROs assessment framework to guide clinical practice treatment in people with VLUs in Australia. Semi-structured qualitative interviews were conducted with VLU patients (N = 13) and their managing clinicians (N = 6) in Victoria, Australia. Interview topics covered content and face validity, appropriateness, and acceptability of the VLU-QoL instrument to determine suitable and appropriate for use in clinical practice. Clinicians and patients agreed that a VLU-QoL instrument was needed in clinical practice. Both clinicians and patients agreed it would be appropriate to answer PROMs questions prior to consultation with clinicians every 3-6 months. However, patients considered that some of the questions are ambiguous and too technical. Patients reported that it would be useful to include additional items relating to daily wound care, compression bandaging, and dressings. Clinicians reported that the VLU-QoL instrument was too long and required restructuring to facilitate utility in practice. A conceptual framework for HRQoL in VLUs included traditional HRQoL components and VLU-specific issues. Overall, the VLU-QoL was well accepted, although changes to make it more concise, comprehensive, and to clearly reflect consumers' perspectives were lacking. The proposed conceptual framework will inform the development of a new PROM for use by clinicians and patients in clinical settings.

Patient-reported outcome measures (PROM) are potentially useful outcome measures that may be reported at the individual clinical, health service and/or health system level. PROM require clearly defined patient populations to enable comparisons, and are most meaningful when integrated with clinical data sets. Where possible PROM should be measured pre- and post-intervention using reliable and validated tools. A variety of PROM collection methods exist which each have strengths and limitations, with selection depending on their purpose and patient factors. PROM programmes should be developed with high levels of clinician support and patient input to maximise collection of clinically relevant information.

We recorded ganzfeld scotopic ERGs to examine the responses of human rod bipolar cells in vivo, during dark adaptation recovery following bleaching exposures, as well as during adaptation to steady background lights. In order to be able to record responses at relatively early times in recovery, we utilized a ‘criterion response amplitude’ protocol in which the test flash strength was adjusted to elicit responses of nearly constant amplitude. In order to provide accurate and unbiased measures of response kinetics, we utilized a curve-fitting procedure to fit a smooth function to the measured responses in the vicinity of the peak, thereby extracting both the time-to-peak and the amplitude of the responses. Following bleaching exposures, the responses exhibited both desensitization and accelerated kinetics. During early post-bleach recovery, the flash sensitivity and time-to-peak varied according to a power-law expression (with an exponent of 6), as found in the presence of steady background light. This light-like phenomenon, however, appeared to be set against the backdrop of a second, more slowly recovering ‘pure’ desensitization, most clearly evident at late post-bleach times. The post-bleach ‘equivalent background intensity’ derived from measurements of flash sensitivity faded initially with an S2 slope of ∼0.24 decades min−1, and later as a gentle S3 tail. When calculated from kinetics, the results displayed only the S2 slope. While the recovery of rod bipolar cell response kinetics can be described accurately by a declining level of opsin in the rods, the sensitivity of these cells is reduced further than expected by this mechanism alone.