BackgroundFamilies of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and extent of this burden. Our aim was to develop a comprehensive survey to assess health, psychosocial and financial impacts on Australian families caring for a child with a rare disease.MethodsWe developed a self-administered survey for parents/carers incorporating pre-validated tools. The survey included questions about experiences of diagnosis, health services use and needs, needs for peer and financial supports. Forty-seven families attending the state-wide Genetic Metabolic Disorders Service at the Children’s Hospital at Westmead, Sydney were invited to participate.ResultsOf 46 families who received the survey, 30 (65%) completed it. Most (93%) found the survey acceptable and relevant (91%). Patients were 1–17 years old, 14 (47%) male, and 12 (40%) non-Caucasian. Eighteen (60%) had a lysosomal storage disease and 12(40%) had a mitochondrial disorder. Eleven (38%) saw 3–5 doctors and four (14%) saw 6–10 doctors before receiving the correct diagnosis; 43% felt diagnosis was delayed. Four (13%) were dissatisfied with the way diagnosis was given, due to insensitive style of communication, inadequate information and psychological support. Psychosocial impact was moderate to high for 90% of families and the level of impact was not dependent on the level of health functioning of the child. Twenty-six (87%) wanted, but only 13(43%) received, information about peer-support groups. The 30 children accounted for 168 visits to general practitioners and 260 visits to specialist doctors; 21 (70%) children had at least one admission to hospital, including one who had 16 admissions in the previous 12 months. Most families (77%) received financial assistance but 52% believed this was insufficient. Families benefited from a specialised multi-disciplinary clinic but called for patient-held electronic medical records.ConclusionsAustralian families caring for children with genetic metabolic disorders are adversely impacted by delays in diagnosis, lack of easy access to peer support groups and lack of psychological support. Further research is needed to estimate economic impact and to analyse health service delivery models for children with rare diseases in Australia.

emale surgeons have been found to have high rates of adverse pregnancy outcomes and infertility. [1][2][3] A survey of 1021 US female surgeons across different specialties found an overall pregnancy complication rate of 35.3%, compared with 14.5% in the general population. 3 Other studies support this finding, with a complication rate of 25.3% identified in a survey of 163 female urologists. 2 High infertility rates in surgeons have also been described. 1,3,4 A total of 32% of respondents to the 2012 survey reported difficulty with fertility compared with 10.9% of the general population. 3 These findings are increasingly significant with female representation in the surgical workforce rising. In the United Kingdom, women now compose 11.1% of consultant surgeons compared with 3% in 1991. 5 In the United States, 20.6% of general surgeons are women compared with 13.6% 10 years ago. 6,7 Female surgeons are having children at an older age: average age at delivery of their first child reported in the 2012 survey was 33 years, compared with 26 years in the general population. 3,8 Advancing maternal age is a risk factor for infertility and adverse pregnancy outcomes, but the extent of the role of age in complication rates in surgeons is difficult to determine. Although older than the comparison population, the female surgeons' average age at first delivery is younger than 35 years, which is traditionally considered the cutoff for advanced maternal age. 9 The association of occupational reproductive hazards with infertility and pregnancy complications in this population has not been adequately explored or defined. Operating room reproductive hazards are summarized in Table 1. Observations RadiationExposure to radiation in the operating room occurs via use of radioactive tracers and imaging techniques that aid surgical procedures. The use of intraoperative radiation is increasing, including development of hybrid operating rooms, which use fixed imaging, such as C-arms and computed tomography. 10 Many specialty surgeons also work and train in an angiography suite; currently, 50% to 75% of all vascular interventions require radiation. 11 IMPORTANCE Higher rates of infertility and pregnancy complications have been found for female surgeons compared with the general population. Several reproductive hazards are present in the operating room and may be associated with these findings. Hazards should be identified and controlled to minimize risks.OBSERVATIONS Studies comparing surgeons with the general population show increased rates of infertility and pregnancy complications, including conditions affecting both mother and fetus, such as spontaneous abortion, preterm delivery, growth restriction, and congenital abnormalities. Attention has focused on older age and demanding working conditions of pregnant surgeons; however, there are reproductive hazards present in the operating room that might also be contributing. Relevant hazards include radiation, surgical smoke, working conditions, sharps injury, anesthetic gases, and intraope...

use for monitoring after cardiac surgery has not been reported.Methods: TTE and lung ultrasound was used prospectively at three time-points after cardiac surgery, (1) day after surgery, (2) after extubation and removal of chest drains, and (3) at ward discharge, to identify significant cardiac and respiratory abnormalities. The treating physician documented their clinical cardiac and respiratory assessment, including standard pathology tests, ECG and chest X-rayprior to and after -independently performed TTE and lung ultrasound at each time point. Diagnostic changes arising from the TTE and lung ultrasound results being provided to the treating physican, were recorded.Results: TTE and lung ultrasound image quality in 91 patients was acceptable or good in all patients except in only one patient at one time 1 (yet sufficient imaging from this study was available to base clinical management on). TTE and lung ultrasound changed the diagnosis of cardiac and/or respiratory disorders in 61 patients (67%), with new findings in 83% and exclusion of clinically suspected disorders in 17%. Changes in diagnosis included left ventricular systolic failure 22, diastolic failure 2, systolic and diastolic failure 13, right ventricular failure 1, hypovolaemia 1, pericardial effusion 5, valve dysfunction 5, pleural effusion 35, pneumothorax 3, alveolar interstitial syndrome 3 and consolidation in 2. Lung ultrasound detected pleural effusion with an estimated volume of ! 500 mL at the three time-points in 34%, 31% and 11% respectively, and these effusions were not reported by chest xray in 20%, 11% and 90% respectively. At time 1, the influence of ultrasound to alter the diagnosis was more pronounced for cardiac 84% than for respiratory 6% abnormalities, which varied by time 3, 44% cardiac vs. 42% for respiratory.Discussion: Routine repeated transthoracic echocardiography and lung ultrasound after cardiac surgery is feasible and frequently alters diagnosis.http://dx.

9574 Background: Surgery remains the gold standard for resectable melanoma in-transit metastases (ITM). Unresectable ITM is a heterogenous disease with multiple treatment (tx) options including systemic therapies such as immune checkpoint inhibitors (ICI), regional therapies such as isolated limb infusion or perfusion (ILI/P), and intratumoral therapies such as talimogene laherparepvec (IT). Until now, there has been no direct comparison of these first-line tx for unresectable ITM. Methods: A retrospective chart review of patients (pts) with ITM treated first-line with IT, ILI/P, or ICI was performed at 11 institutions. Pts with unresectable ITM, synchronous nodal or distant metastatic disease were excluded. Results: 560 pts (54% women) were identified, 86 received IT, 353 received ILI/P, and 121 received ICI from 1990-2022. ICI pts were youngest, IT pts were oldest (p<0.001). Limb was the most common site of ITM. There was no difference in largest ITM size, but number of lesions (burden of disease (BOD)) was highest in ILI/P pts and lowest in IT pts (p=0.003). Toxicity (tox) requiring <90 days (p<0.001) or > 90 days (p=0.034) of pharmacologic tx as well as tox requiring hospitalization (p<0.001) was greatest in ICI pts. Lymphedema was more likely in ILI/P pts (p=0.016). Median follow-up was much longer for ILI/P pts at 8.0 yrs compared to 2.5 yrs for IT pts and 3.1 yrs for ICI pts. Overall response rate (ORR) was 82.2% in ILI/P pts, significantly higher than IT (72.1%, p=0.047) or ICI pts (63.6%, p<0.001). Overall survival was similar between modalities (p=0.167); however, ILI/P pts had worse progression-free survival (PFS) (p<0.0001) and melanoma-specific survival (MSS) (p=0.003). On multivariable analysis of MSS by number of ITM present, MSS remained worst if ILI/P was used for low BOD, ≤3 ITM (p=0.005), but no difference was seen between tx modalities for higher BOD, >3 ITM (p=0.211). Conclusions: ICI was used more often in younger pts with less BOD, IT in older pts with less BOD, and ILI/P in older pts with high BOD. Short and long-term tox was greater in ICI. ILI/P had the best ORR, but ICI and IT resulted in greater overall MSS. Multidisciplinary consideration of risks and benefits of each modality should guide ITM tx selection. [Table: see text]