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To assess the psychosocial outcomes of facial weakness in facioscapulohumeral muscular dystrophy (FSHD). A cross-sectional survey study. The severity of facial weakness was assessed by patients (self-reported degree of facial weakness) and by physicians (part I FSHD clinical score). Questionnaires on facial function, psychosocial well-being, functioning, pain, and fatigue were completed. Regression analyses were performed to explain variance in psychosocial outcomes by demographic and disease variables. One hundred and thirty-eight patients participated. They reported mild to moderate psychological distress, no to mild fear of negative evaluation, and moderate to good social functioning. However, patients with severe self-reported facial weakness scored lower in social functioning. Patients with more facial dysfunction experienced more fear of negative evaluation and lower social functioning. Furthermore, younger age, presence of pain, fatigue, walking difficulty, and current or previous psychological support were associated with lower psychosocial outcomes. Overall, patients report moderate to good psychosocial functioning in this study. The factors contributing to lower psychosocial functioning are diverse. A multidisciplinary, personalized approach, focusing on coping with physical, emotional, and social consequences of FSHD is supposed to be helpful. Further research is needed to assess the psychosocial outcomes of facial weakness in younger patients. Research on the psychosocial consequences of facial weakness in facioscapulohumeral muscular dystrophy (FSHD) is limited. Patients with FSHD experience mild to moderate psychosocial distress, partly due to overall disease severity, such as reduced mobility, and partly due to facial weakness and reduced facial function. Self-reported degree of facial weakness and facial dysfunction were related to lower psychosocial outcomes (social functioning, fear of negative evaluation, and psychological distress). Physician-reported degree of facial weakness was not related to psychosocial outcomes, suggesting an absence of a strong correlation between observed facial weakness and experienced disease burden in this study. This calls for a multidisciplinary, personalized approach with a focus on coping with physical, emotional, and social consequences of FSHD. [ABSTRACT FROM AUTHOR]

Background: Bowel dysfunction after rectal cancer surgery is common, with some experiencing low anterior resection syndrome (LARS) is common after rectal cancer surgery. This study examined if transanal total mesorectal excision (TaTME) has a similar risk of LARS and altered quality of life (QoL) as patients who undergo low anterior resection (LAR). Methods: Patients who underwent TaTME or traditionally approached total mesorectal excision in a prospective colorectal cancer cohort study (2014-2019) were propensity score matched in a 1 : 1 ratio. LARS and QoL scores were assessed before and after surgery with a primary endpoint of major LARS at 12 months analysed for possible association between factors by logistic regression. Results: Of 61 TaTME and 317 LAR patients eligible, 55 from each group were propensity score matched. Higher LARS scores (30.6 versus 25.4, P=0.010) and more major LARS (65 versus 42 per cent, P=0.013; OR 2.64, 95 per cent c.i. 1.22 to 5.71) were reported after TaTME. Additionally, QoL score differences (body image, bowel frequency, and embarrassment) were worse in the TaTME group. Conclusions: TaTME may be associated with more severe bowel dysfunction than traditional approaches to rectal cancer. [ABSTRACT FROM AUTHOR]

Follow-up after curative treatment for colorectal cancer (CRC) puts pressure on outpatient services due to the growing number of CRC survivors. The aim of this state-of-the-art review was to evaluate setting, manner and provider of follow-up. Moreover, perceptions of CRC survivors and health care providers regarding standard and alternative follow-up were examined. After a comprehensive literature search of the PubMed database, 69 articles were included reporting on CRC follow-up in the hospital, primary care and home setting. Hospital-based follow-up is most common and has been provided by surgeons, medical oncologists, and gastroenterologists, as well as nurses. Primary care-based follow-up has been provided by general practitioners or nurses. Even though most hospital- or primary care-based follow-up care requires patients to visit the clinic, telephone-based care has proven to be a feasible alternative. Most patients perceived follow-up as positive; valuing screening and detection for disease recurrence and appreciating support for physical and psychosocial symptoms. Hospital-based follow-up performed by the medical specialist or nurse is highly preferred by patients and health care providers. However, willingness of both patients and health care providers for alternative, primary care or remote follow-up exists. Nurse-led and GP-led follow-up have proven to be cost-effective alternatives compared to specialist-led follow-up. If proven safe and acceptable, remote follow-up can become a cost-effective alternative. To decrease the personal and financial burden of follow-up for a growing number of colorectal cancer survivors, a more acceptable, flexible and dynamic care follow-up mode consisting of enhanced communication and role definitions among clinicians is warranted., Competing Interests: Declaration of competing interest No potential conflicts of interest., (Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Mutations in RYR1 are a common genetic cause of non-dystrophic neuromuscular disorders. To obtain baseline data concerning the prevalence of fatigue, the psychological disease burden and quality of life associated with these common conditions, we performed a questionnaire study. Seventy-two patients were included in this study, 33 with a congenital myopathy and 39 with malignant hyperthermia or exertional rhabdomyolysis. Our results showed that patients with RYR1-related myopathies have more functional impairments and significant chronic fatigue compared to healthy controls, with almost half of patients being severely fatigued. Whilst fatigue, pain and associated physical and social difficulties were more pronounced in those with permanent phenotypes, individuals with intermittent phenotypes also scored higher in all relevant categories compared to healthy controls. These findings indicate that RYR1-related myopathies, despite being often considered relatively mild conditions, are nevertheless associated with severe fatigue and functional limitations, resulting in substantial loss of quality of life. Moreover, milder but in essence similar findings in patients with RYR1-related malignant hyperthermia and rhabdomyolysis suggest that those phenotypes are not truly episodic but in fact associated with a substantial permanent disease burden. These preliminary data should help to design more comprehensive quality of life studies to inform standards of care., (Copyright © 2018 Elsevier B.V. All rights reserved.)