Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves' disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets

Digital patient-reported outcomes in inflammatory bowel disease routine clinical practice:the clinician perspective

BACKGROUND: Use of digital health services, such as digital patient-reported outcomes, depends on many different human factors as well as digital design solutions. One factor is clinicians’ attitude towards the system, their reasoning behind the using system and their perceptions of patients’ ability to engage with digital health systems. This study aimed to explore hospital clinicians’ attitudes towards digital patient-reported outcomes used in the routine care and treatment of inflammatory bowel disease, and to explore the potential role of clinicians’ attitudes in influencing patients’ use of digital patient-reported outcomes. RESULTS: Twelve clinicians using digital patient-reported outcome assessments in the care of inflammatory bowel disease were interviewed about their experiences of, and perspectives on, using this service. Most participants supported the use of digital patient-reported outcome assessments in the care of most patients. Participants reported that most patients found the digital solution easy to use. They perceived digital patient-reported outcomes to have three main purposes: prioritising resources; improving patients’ quality of life; and improving quality of care. The patient-clinician relationship was of great importance to participants. Participants varied in their intention to use digital PRO, as some viewed the system as a positive but optional add-on for patients, whilst others intended to use the system with all eligible patients. CONCLUSION: Clinicians’ general support of using digital patient-reported outcomes might facilitate their use among patients with inflammatory bowel disease. The participants saw benefits in doing so for patients, clinicians and the wider health service. Clinicians’ attitudes towards the use of digital PRO in the care of their patients may influence patients’ uptake of health service. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s41687-022-00462-x

Patient perspectives on digital patient reported outcomes in routine care of inflammatory bowel disease

Plain English summary ‘Digital patient reported outcomes’ refer to systems by which health professionals collect health information from patients between consultations, mostly via self-completed online questionnaires. This approach aims to support treatment and disease management, and reduce avoidable face-to-face consultations between doctor and patient. However, patients may have concerns about using digital systems to communicate with their clinicians, particularly regarding having fewer face-to-face consultations. To find out more, we interviewed sixteen patients at an Inflammatory Bowel Disease outpatient clinic in Denmark, where digital Patient Reported Outcomes have been used since 2017. We found out that patients needed to have enough familiarity with technology to be able to use these online systems. Patients were worried about how this new way of communicating with the clinic affected their care and their relationship with their doctors and nurses. People with Inflammatory Bowel Disease can have long periods of time with very little disease activity, and in these stable periods, a lot of patients found that a digital Patient Reported Outcomes system was a good way to stay in touch with the clinic and keep reporting their symptoms online– as long as they still had the possibility of contacting the clinic by telephone if needed. During disease flare-ups, patients believed that digital patient reported outcomes’ could be used to give broader insight into their health situation, and trusted their clinicians to use their self-reported data to improve their care

The impact of a breast cancer diagnosis on health-related quality of life. A prospective comparison among middle-aged to elderly women with and without breast cancer

<p><b>Background</b> The improved survival after breast cancer has prompted knowledge on the effect of a breast cancer diagnosis on health-related quality of life (HQoL). This study compared changes in HQoL among women from before to after breast cancer diagnosis with longitudinal changes among women who remained breast cancer-free.</p> <p><b>Material and methods</b> The Danish Diet, Cancer and Health study included 57 053 cancer-free persons aged 50–64 years at baseline (1993–1997). We used data from first follow-up (1999–2002) and second follow-up (2010–2012) on HQoL [Medical Outcomes Survey, short form (SF-36)] obtained from 542 women aged 64–82 years with primary breast cancer (stages I–III) and a randomly matched sample of 729 women who remained breast cancer-free. Linear regression models were used to estimate the differences in changes in HQoL between women with and without breast cancer; the analyses were repeated with stratification according to age, comorbidity, partner support and time since diagnosis.</p> <p><b>Results</b> Women with breast cancer reported significantly larger decreases in HQoL from before to after diagnosis than those who remained breast cancer-free (physical component summary, −2.0; 95% CI −2.8; −1.2, mental component summary, −1.5, 95% CI −2.3; −0.6). This association was significantly modified by comorbidity and time since diagnosis.</p> <p><b>Conclusions</b> Women with breast cancer reported significantly larger HQoL declines than breast cancer-free women. Breast cancer diagnosis seems to have the greatest impact on HQoL closest to diagnosis and in women with comorbidity indicating that this group should be offered timely and appropriate follow-up care to prevent HQoL declines.</p