Aims of the study: Health-related quality of life (HRQoL) indicators are patient-reported outcomes (PROs). PROs are defined as any report of the status of a patient's health condition or health behaviour that comes directly from the patient, without interpretation of the patient's response by a clinician or anyone else. Despite Swiss national bodies (FOPH, FMH) recognising the potential of PRO measures (PROMs) for improving the health system, no consensus has yet emerged regarding a generic PROM framework or specific domains for practical uptake. The aim of the present digital Delphi study was to generate a consensual Swiss expert opinion on a generic PROM framework, measurement domains and items from a validated instrument (PROMIS [Patient-Reported Outcome Measurement Information System]) as well as on the role and implementation of PROs in the Swiss healthcare system via PRO consensus statements.
Methods: A 4-round digital Delphi study was conducted among Swiss PRO stakeholders. A total of n = 21 Swiss PROM stakeholders completed round 1 surveys on the PROM framework. During the stakeholder meeting, n = 11 stakeholders completed round 2 and round 3 surveys pertaining to measurement domains and items, respectively. In-meeting key questions and discussion items were extracted, consolidated into statements and subjected to consensus voting in a round 4, post-meeting survey. Consensus was defined as ≥70% agreement.
Results: Pre-meeting, agreement was reached for the tripartite framework of physical, mental and social health (95-100%). During the meeting, agreement was reached on all seven measurement domains of a generic PROM (PROMIS-29), ranging from 80% (Anxiety, Sleep Disturbance) to 100% (Pain Interference, Depression, Ability to Participate in Social Roles). Consensus was also reached for all PROMIS-29 items, with average domain consensus ranging from 83% (Sleep Disturbance, Ability to Participate in Social Roles) to 100% (Depression). Finally, four post-meeting consensus statements regarding PROs in Switzerland reached agreement.
Conclusions: A Delphi method can help identify areas of need regarding PROMs in Switzerland. The current study identified a generic PROM as a missing quality indicator for the Swiss national health system's value. A pre-meeting informational briefing, expert presentations and moderation supported three voting rounds to help identify PROMIS-29 as a PROM framework (round 1), measurement domains (round 2) and items (round 3) as a basis for further validation research. The empirical agreement among diverse stakeholders supports broad consensus towards preliminary feasibility of integrating generic PROMs into the Swiss health system based on content relevance.
Background and aims: People with familial hypercholesterolaemia are 13 times more likely to develop cardiovascular disease than the general population. However, familial hypercholesterolaemia remains largely underdiagnosed. Tendon xanthoma is a specific clinical feature of familial hypercholesterolaemia and its presence alone implies a probable diagnosis of familial hypercholesterolaemia according to the Dutch Lipid Clinic Network Score (DLCNS). The aim of the study was to determine whether ultrasound detects more Achilles tendon xanthomas (ATX) than clinical examination.
Methods: We recruited 100 consecutive patients with LDL-C ≥4 mmol/l. Achilles tendons were evaluated through clinical examination by trained physicians and sonographic examination by another physician blind to the results of clinical examination. Blind second readings of ultrasound images were performed by an expert in musculoskeletal ultrasound. We compared the proportion of patients with ATX detected by either clinical examination or ultrasound and the proportion of patients with a probable/definite familial hypercholesterolaemia diagnosis on the DLCNS before and after ultrasound.
Results: Mean (SD) age was 47 (12) years; mean highest LDL-C was 6.57 mmol/l (2.2). ATX were detected in 23% of patients by clinical examination and in 60% by ultrasound. In consequence, 43% had a probable/definite diagnosis of familial hypercholesterolaemia on the DLCNS using clinical examination compared with 72% when ultrasound was used.
Conclusion: Compared to clinical examination, ultrasound examination of the Achilles tendon substantially improves the detection of ATX and may help to better identify patients with familial hypercholesterolaemia who are at high risk for premature cardiovascular disease.
Introduction: Hair-thread strangulation syndrome describes the constriction of a body part by a tightly wound hair or thread. This research aims to review the literature about this entity.
Methods: A systematic review was performed to characterise hair-thread strangulation syndrome in subjects aged ≤16 years. This pre-registered review (PROSPERO ID: CRD42022363996) followed the PRISMA methodology.
Results: Subjects with digital strangulation were significantly younger (median = 4.0 [interquartile range: 2.0-6.1] months; n = 143) than females with genital strangulation (9.0 [6.8-11] years; n = 36), males with genital strangulation (5.1 [1.9-8.0] years; n = 36), and subjects with non-digital and non-genital strangulation (24 [13-48] months; n = 11). Digital strangulation was followed by an amputation in five (3.5%) and a reconstructive surgical intervention in seven (4.9%) cases. Sequelae occurred in four (11%) cases after female genital strangulation: clitoris autoamputation (n = 2) and surgical removal of a necrotic labium minus (n = 2). Severe complications were observed in 14 (39%) cases with male genital strangulation: urethral fistula (n = 7), urethral transection (n = 2), and partial penile autoamputation (n = 5). A partial uvular autoamputation was observed in one case (9.0%) with non-digital and non-genital strangulation.
Conclusions: Early recognition and management are crucial to avoid sequelae or long-term care in hair-thread strangulation syndrome.