European journal of internal medicine
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Eur. J. Intern. Med. · Dec 2022
Genetic testing in autoinflammatory diseases - past, current and future perspectives.
Autoinflammatory diseases (AID) are a group of rare monogenic illnesses, leading to uncontrolled activation of the innate immune system and presenting with recurrent flares of systemic and localized inflammation. Diagnosis is confirmed by the detection of a class IV or class V gene variant in an AID-related gene and improvements in sequencing techniques have enabled the discovery of new entities. The aim of our study is to explore the diagnostic yield of evolving genetic testing methods for AID and to determine whether increasing gene panels generate a higher diagnostic rate. ⋯ Our study is the first nationwide study for autoinflammatory genetic testing and the first use of mendeliome technology for AID diagnosis. Although we confirmed that the bigger the gene panel, the higher the diagnostic rate, this technology generated inevitably a higher financial and human cost although the majority of diagnoses remained amongst the four original hereditary recurrent fevers (HRFs).
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Eur. J. Intern. Med. · Dec 2022
ReviewPOCUS in dyspnea, nontraumatic hypotension, and shock; a systematic review of existing evidence.
Point-of-care ultrasound (POCUS) has been adopted as a powerful tool in acute medicine. This systematic review aims to critically appraise the existing literature on point-of-care ultrasound in respiratory or circulatory deterioration. ⋯ We conclude that POCUS contributes to a higher diagnostic accuracy in dyspnea, nontraumatic hypotension, and shock. It aides in narrowing the differential diagnoses and shortening the time to correct diagnosis and effective treatment.
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Internal Medicine wards are an appropriate focus of antibiotic stewardship, along with emergency departments and intensive care units, because a large proportion of patients are with parenteral broad-spectrum antibiotics. Given the unmet clinical need of antibiotic optimization in the hospital and the importance of front-line practitioners for antibiotic stewardship, the barriers and tactics to overcome them were discussed in a round table at the European Congress of Internal Medicine. Better rapid diagnostic tests should help to increase appropriate early antibiotic rates, favoring diversity in antibiotic choices adapted to the awareness of local resistance patterns. ⋯ Shorter antibiotic duration and de-escalation are major drivers to reduce adverse events, with mortality and recurrence rates being independent of antimicrobial duration. Appropriate diagnostic tests with quick turnaround times decrease excessive antibiotic use. Antimicrobial optimization requires a multidisciplinary approach and it should be a core competence of training specialists, improving opportunities to provide safer patient care.