DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years

Objective DMD/BMD prenatal diagnosis for 931 foetuses. Background DMD is the most common fatal X-linked recessive muscular disease. There is no effective clinical treatment method at present. Accurate gene diagnosis and prenatal diagnosis technology are important ways for early detection, early prevention and early treatment. Methods A total of 931 prenatal diagnoses were performed for pregnant women with a definite family history of DMD or a history of DMD childbirth between 2005 and 2019. This report may be considered the largest DMD prenatal diagnosis report in a single centre worldwide. Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing were used in combination. Techniques and short tandem repeat (STR) linkage analysis were used to determine the location of the DMD gene mutation in the pregnant woman and then to detect the DMD gene in the foetuses. Results There were 872 families in our study. Among all 931 foetuses, 20.73% (193/931) were males expected to develop DMD and 16.33% (152/931) were female carriers. In addition, gonadal mosaicism was observed in 5 mothers, and gene recombination was identified in three foetuses. The results of the prenatal diagnosis were consistent with the results of the CPK analysis, and the results of the prenatal diagnosis were 100% accurate. Conclusions MLPA and Sanger sequencing, when combined with STR linkage analyses, can provide an accurate and rapid prenatal diagnosis. Due to the high de novo rate, prenatal diagnosis and genetic counselling should be given great attention.

AB0895-HPR A MODERATED MEDIATION ANALYSIS FOR POOR ORAL HEALTH-RELATED QUALITY OF LIFE IN PATIENTS WITH BEHÇET’S DISEASE

Background:Since oral ulcer is a common clinical manifestation, oral health-related quality of life (OHRQoL) is affected by the presence of oral ulcer poorly in patients with Behcet’s disease (BD).Objectives:The aim of the study was to examine associated factors for poor OHRQoL status to improve treatment outcomes in patients with BD.Methods:In this retrospective study, 339 BD patients (F/M: 179/160, mean age: 36,13±9,81 years) included. Data were collected by a structured questionnaire regarding treatment expectation, Oral Health Impact Profile-14 (OHIP-14) questionnaire for OHRQoL, oral ulcer activity, and disease severity score. Treatment expectation was coded by a 5-point Likert type scale (1: symptoms were completely cured vs 5: symptoms were worsened). OHIP-14 score was between “0 point (the best score)” and “56 points (the worst score)”. The disease severity score was calculated according to the organ involvement. Then, patients were categorised as mucocutaneous involvement (n=181) and severe organ involvement (n=158). After preliminary analysis, a Moderated Mediation analysis was carried out.Results:Oral ulcer activity was seen in 63,4% of the group (n=215). OHIP-14 score (22,05±16,47) was correlated with Treatment expectations (2,35±0,98) (r: 0,36 p=0.000) in the group. Poor scores of OHIP-14 and Treatment expectations were found in patients with active oral ulcers (mucocutaneous involvement: 27,56±14,55; 2,68±0,87, vs severe organ involvement: 28,51±17,25; 2,43±0,99) compared to those of inactive patients (mucocutaneous involvement: 13,38±12,23; 1,81±0,73 vs severe organ involvement: 8,79±10,19; 1,85±1,02) (p=0.000 for all). Patients with active oral ulcers were younger (35,09±9,52) than the others (39,57±10,06) in the mucocutaneous involvement group (p=0.0011) whereas a similar relation was not seen in the severe organ involvement (p=0.233).In the moderated mediation analysis, it was found that OHIP-14 score was increased by the presence of oral ulcer in the direct path (p=0.0000) and the negative Expectation of the treatment as a first mediator (p = 0.0001) in the indirect path. Oral ulcer activity was associated with younger patients (p=0.0039). This effect was seen especially in patients with mucocutaneous involvement that had a moderator effect (p=0.0040). In addition, age was found to be a second mediator for the poor OHIP-14 score (p = 0.0053). Mediators and the moderator were found to effective for OHIP-14 score a bootstrap analysis with 5000 replications.Conclusion:OHRQoL was affected by oral ulcer activity and poor treatment expectations. Age was also found to be another critical factor for OHRQoL.Disclosure of Interests:None declared

Effects of Patients’ Expectation in Dermatology: Evidence from Experimental and Clinical Placebo Studies and Implications for Dermatologic Practice and Research

Patients’ expectations towards the benefit of a treatment are key determinants of placebo responses and can affect the development and course of medical conditions and the efficacy and tolerability of active medical treatment. The mechanisms mediating these placebo and nocebo effects have been best described in the field of experimental pain and placebo analgesia. However, also in dermatology experimental and clinical studies demonstrate that various skin diseases such as inflammatory dermatoses and allergic reactions can be modulated by patients’ expectations. Dermatologists should consider the important modulatory role of patients’ expectations on the efficacy and tolerability of specific treatments and the key role of verbal information, patients’ prior treatment experiences (associative learning), and the quality and quantity of doctor-patient communication in shaping treatment expectation. As a consequence, techniques aiming at maximizing patients’ expectation effects should be implemented into daily clinical routine. By contrast, in clinical studies expectation effects should be maximally controlled and harmonized to improve the “assay sensitivity” to detect new compounds. Further translational studies, also in dermatoses that have not been investigated yet, are needed to better characterize the mechanisms underlying patients’ expectation and to gain further insights into potential clinical implications of these effects in dermatologic conditions. Therefore, in this review, we provide a brief overview on the concept of expectation effects on treatment outcome in general, summarize what is already known about this topic for dermatologic diseases, and finally present the relevance of this topic in clinical dermatology.

Development of the generic, multidimensional Treatment Expectation Questionnaire (TEX-Q) through systematic literature review, expert surveys and qualitative interviews

ObjectivePatients’ expectations—as a central mechanism of placebo and nocebo effects—are an important predictor of health outcomes. However, the lack of a way to assess expectations across different settings restricts progress in understanding the role of expectations and to quantify their importance in medical and psychological treatments. The aim of this study was to develop a theory-based, generic, multidimensional measure assessing patient expectations of medical and psychological treatments.DesignThe Treatment Expectation Questionnaire (TEX-Q) was developed based on the integrative model of expectations and a systematic literature review of treatment expectation scales. After creating a comprehensive item pool, the scale was further refined by use of expert ratings and patient interviews.SettingPatients were recruited in primary care at two hospitals in Hamburg, Germany.Participants13 scientific experts participated in the expert survey. 11 patients waiting for psychological or surgical treatments participated in the qualitative interviews.ResultsThe 2×2×2 multidimensional structure of the TEX-Q assesses two expectation constructs (probabilistic vs value-based) across two outcome domains with two valences (direct benefits and adverse events, broader positive and negative impact), plus process and behavioural control expectations. We examined 583 items from 38 scales identified in the systematic review and developed 78 initial items. Content validity was then rated by experts according to item fit and comprehensibility. The best 53 items were further evaluated for comprehensibility, acceptability, phrasing preference and understanding by interviewing patients prior to treatment using the ‘think aloud’ technique. This resulted in a first 35-item version of the TEX-Q.ConclusionsThe TEX-Q is a generic, multidimensional measure to assess patient expectations of medical and psychological treatments and allows comparison of the impact of multidimensional expectations across different conditions. The final TEX-Q will be available after psychometric validation.

Understanding the patient voice in gout: a quantitative study conducted in Europe

BackgroundAlthough commonly diagnosed, gout often remains a poorly managed disease. This is partially due to a lack of awareness of the long-term effect of gout among patients and healthcare professionals.AimTo understand unmet needs for patients and provide insight into achieving better treatment.Design & settingA quantitative online questionnaire collected from 1100 people with gout from 14 countries within Europe.MethodPatients were recruited to complete an online survey via healthcare professional (HCP) referral, patient associations, or market research panels. Patients were included if they had been diagnosed with gout by a physician. Prior to commencement, patients were made aware that this study was sponsored by Grünenthal. The responses collected were collated and analyses were performed.ResultsPatients had an average of 2.9 gout flares within a 12-month period. Although 79% of patients were satisfied with treatment, inadequate gout control was also reported by 71% of patients. Furthermore, 84% experienced moderate-to-severe pain with their most recent flare. Of those who acknowledged treatment dissatisfaction, only 24% discussed other options with their GP. Most patients reported irregular follow-up and serum uric acid (sUA) monitoring. In addition, loss of belief that more can be done was a key barrier for patients.ConclusionPatients reported severe pain and social burden, coupled with low treatment expectation and lack of awareness of target sUA. Education around knowing and reaching sUA target is needed so that patients can receive and GPs can deliver higher quality management.

Treatment Expectations, Convenience, and Satisfaction with Anticoagulant Treatment: Perceptions of Patients in South-East Queensland, Australia

Background: Warfarin has long been the only oral anticoagulant (OAC) available, but options now include non-vitamin K antagonists. Prescribing an OAC may be influenced by patient factors and preferences influenced by dosing, monitoring, and adverse effects, which may ultimately impact patient satisfaction and convenience. The aim of this study was to explore the perception of OAC treatment by Australian patients in terms of treatment expectations, convenience, and satisfaction. Methods: The Perception of Anticoagulant Treatment Questionnaire was distributed to patients dispensed OAC medication from three pharmacies in South-East Queensland. Responses to questions using a five-point Likert scale were collated and mean results utilised to assess expectations, convenience, and satisfaction, including an analysis across demographic groups. Results: A total of 56 (26.8%) surveys were returned, with the majority of respondent’s male (58.2%). Highest mean scores for treatment expectation were for an OAC that was easy to take (4.85 ± 0.79) and that could be taken care of by the respondents themselves (4.11 ± 1.14). The mean overall score for convenience was 68.90 ± 11.44% and for satisfaction 69.43 ± 16.58%. Significantly higher mean convenience scores were found in females and patients with atrial fibrillation. Conclusions: Patients’ highest expectations were for an OAC that would be easy to take, and overall satisfaction and convenience was around 69%. Factors including demographics can influence perceptions of therapy, and addressing individual preferences for OAC therapy may increase ratings of satisfaction and convenience.