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Introduction/Objectives: Individually rare, rare diseases are collectively common resulting in frequent health system use. Navigating the health system persists as a challenge. Primary care provides longitudinal contact with the health system and is placed to provide integrated rare-disease-care. Methods: This scoping review used Joanna Briggs Institute and PRISMA methods with a Consolidated Framework for Implementation Research based data extraction tool to find how integrated rare-disease-care is delivered, enablers and barriers to the same, in primary care settings in contemporary literature in OECD countries. Results: The Primary Care Provider (PCP) role varies from routine primary care to shared-rare-disease-care models. In the 26 papers, the most frequently cited PCP roles included involvement in diagnosis (n = 14), care coordination (n = 16), primary and preventative care (n = 18), management of components of rare-disease-care (n = 13), and treatment monitoring (n = 10). Individuals whose PCP was actively involved in their care were reported to have shortened diagnostic delay, improved transitions of care across the lifespan, reduced unplanned utilization of emergency and hospital services, comprehensive psychosocial care, improved quality of life across environments including home, school and work and improved palliative care experiences. Conclusions: Sufficient communication from specialists, information, resources, time and reimbursement for complex care are still needed. Future integrated-rare-disease-care models should be developed by, or with, PCPs.

Abstract Background Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality. We assessed the diagnostic utility of using trio exome sequencing in chILD. We prospectively enrolled children meeting specified clinical criteria between 2016 and 2020 from 16 Australian hospitals. Exome sequencing was performed with analysis of an initial gene panel followed by trio exome analysis. A subset of critically ill infants underwent ultra-rapid trio exome sequencing as first-line test. Results 36 patients [median (range) age 0.34 years (0.02–11.46); 11F] were recruited from multiple States and Territories. Five patients had clinically significant likely pathogenic/pathogenic variants (RARB, RPL15, CTCF, RFXANK, TBX4) and one patient had a variant of uncertain significance (VIP) suspected to contribute to their clinical phenotype, with VIP being a novel gene candidate. Conclusions Trio exomes (6/36; 16.7%) had a better diagnostic rate than gene panel (1/36; 2.8%), due to the ability to consider a broader range of underlying conditions. However, the aetiology of chILD in most cases remained undetermined, likely reflecting the interplay between low penetrant genetic and environmental factors.

Sremski Karlovci is an ancient town, a spiritual polis, situated in Serbia (Vojvodina). The town has a favourable geographical position for tourism. It is located along the Corridor X, 6 kilometres from Novi Sad, the capital city of Vojvodina, on the national road to Belgrade. Sremski Karlovci is located on the right bank of the Danube river, on the north-eastern slopes of the Fruška Gora Mountain. It has been declared a municipal town, the only one in the country, with 8,839 inhabitants. The main tourist resources of the town – thepillars of tourism are represented by the cultural heritage and nature (the Danube river and the Fruška Gora Mountain). Sremski Karlovci is a tourist resort with a potential that has not beenused substantially. This paper will try to outline the possible ways for the development of tourism in this town.

Fruska gora (Alma Mons) is a mountain (538 meters high - 78 kilometers long) in the south- west part of Vojvodina European region, in the north of Serbia. Its northern border is the Danube River. One part of Fruska gora is the National park (25,348 hectares). The territory of Fruska gora is an attractive and developed tourism destination. It is rich in different natural and cultural tourism resources, which are in perfect harmony. Within Fruska gora (500 squares kilometres), there are 16 middle century monasteries - centres of religious tourism. Monasteries were built in the 15th century as centres of culture and spirituality and all of them are revitalized. They are important cultural monuments of unique architecture with invaluable middle century icons from the artistic point of view that are preserved in religious libraries. Religious tourism in all monasteries is uprising and has the multicultural dialog mission- civilization epoch, cultural styles. Religious tourism is initiated by individuals, families, and tour operators. We presented qualitative characteristics of religious tourism on this territory: tourist profile, socio-cultural, marketing, management, weakness and opportunities. Religions tourism on Fruska gora is in expansion and is improving the territory in many ways.