PurposeThe purpose of this study was to gather insights from colorectal cancer (CRC) survivors on how to improve care for CRC survivors and how e-health technology could be utilized to improve CRC... Show morePurposeThe purpose of this study was to gather insights from colorectal cancer (CRC) survivors on how to improve care for CRC survivors and how e-health technology could be utilized to improve CRC care delivery.MethodsThree semi-structured focus groups were held with sixteen CRC survivors. To initiate the discussion, an online registration form and two vignettes were used. The data was analyzed using the framework method.ResultsBased on survivors' experiences, five themes were identified as opportunities for improving CRC care delivery. These themes include better recognition of complaints and faster referrals, more information as part of the care delivery, more guidance and monitoring of health outcomes, more collaboration between practitioners, and more attention for partners and relatives. In addition, survivors expressed opportunities for using e-health to facilitate information provision, improve communication, and monitor survivors' health conditions.ConclusionSeveral suggestions for improvement of CRC care delivery were identified. These often translated into possibilities for e-health to support or improve CRC care delivery. The ideas of survivors align with the vast array of existing e-health resources that can be utilized to enhance CRC care delivery. Therefore, the next step involves addressing the implementation gap between the needs of stakeholders, such as CRC survivors and healthcare providers, and the e-health tools currently available in clinical practice. Show less
Deursen, L. van; Aardoom, J.J.; Alblas, E.E.; Struijs, J.N.; Chavannes, N.H.; Vaart, R. van der 2023
PurposeThe purpose of this study was to gather insights from colorectal cancer (CRC) survivors on how to improve care for CRC survivors and how e-health technology could be utilized to improve CRC... Show morePurposeThe purpose of this study was to gather insights from colorectal cancer (CRC) survivors on how to improve care for CRC survivors and how e-health technology could be utilized to improve CRC care delivery.MethodsThree semi-structured focus groups were held with sixteen CRC survivors. To initiate the discussion, an online registration form and two vignettes were used. The data was analyzed using the framework method.ResultsBased on survivors’ experiences, five themes were identified as opportunities for improving CRC care delivery. These themes include better recognition of complaints and faster referrals, more information as part of the care delivery, more guidance and monitoring of health outcomes, more collaboration between practitioners, and more attention for partners and relatives. In addition, survivors expressed opportunities for using e-health to facilitate information provision, improve communication, and monitor survivors’ health conditions.ConclusionSeveral suggestions for improvement of CRC care delivery were identified. These often translated into possibilities for e-health to support or improve CRC care delivery. The ideas of survivors align with the vast array of existing e-health resources that can be utilized to enhance CRC care delivery. Therefore, the next step involves addressing the implementation gap between the needs of stakeholders, such as CRC survivors and healthcare providers, and the e-health tools currently available in clinical practice. Show less
Deursen, L. van; Aardoom, J.J.; Alblas, E.E.; Struijs, J.N.; Chavannes, N.H.; Vaart, R. van der 2023
PurposeThe purpose of this study was to gather insights from colorectal cancer (CRC) survivors on how to improve care for CRC survivors and how e-health technology could be utilized to improve CRC... Show morePurposeThe purpose of this study was to gather insights from colorectal cancer (CRC) survivors on how to improve care for CRC survivors and how e-health technology could be utilized to improve CRC care delivery.MethodsThree semi-structured focus groups were held with sixteen CRC survivors. To initiate the discussion, an online registration form and two vignettes were used. The data was analyzed using the framework method.ResultsBased on survivors’ experiences, five themes were identified as opportunities for improving CRC care delivery. These themes include better recognition of complaints and faster referrals, more information as part of the care delivery, more guidance and monitoring of health outcomes, more collaboration between practitioners, and more attention for partners and relatives. In addition, survivors expressed opportunities for using e-health to facilitate information provision, improve communication, and monitor survivors’ health conditions.ConclusionSeveral suggestions for improvement of CRC care delivery were identified. These often translated into possibilities for e-health to support or improve CRC care delivery. The ideas of survivors align with the vast array of existing e-health resources that can be utilized to enhance CRC care delivery. Therefore, the next step involves addressing the implementation gap between the needs of stakeholders, such as CRC survivors and healthcare providers, and the e-health tools currently available in clinical practice. Show less
X-linked hypophosphatemia (XLH) is a rare inheritable disorder of phosphate handling due to loss of function mutations of the PHEX gene, associated with increased production of FGF23 and impaired... Show moreX-linked hypophosphatemia (XLH) is a rare inheritable disorder of phosphate handling due to loss of function mutations of the PHEX gene, associated with increased production of FGF23 and impaired bone mineralization. In children, the disease's most common manifestations are bowing deformities of the lower limbs, short stature, and spontaneous dental abscesses. In adults, these are osteomalacia, insufficiency fractures, and enthesopathies associated with bone and joint pain. The XLH patient's journey with the disease may be difficult, reflecting concerns and experiences globally common to all patients with rare genetic diseases. Delays in diagnosis often preclude an optimal treatment outcome. Under-treatment is common as treating physicians, particularly those not familiar with the disease, tend to err on the side of caution, often choosing safety over efficacy. Physical abnormalities, pain, diminished function, and impaired mobility tend not only to isolate the XLH patient from his peers but also to have a significant psychological effect, eventually leading to significant impairment in quality of life. Significant advances in understanding the pathophysiology of XLH, the availability of a very comprehensive Evidence-based Guideline for the diagnosis and management of XLH, and the successful development of an effective and safe disease-specific novel therapy for XLH, have paved the way for a significant improvement in the management of this rare disorder of phosphate metabolism, heralding a significant improvement in the disease's outcome measures. Additional data from longterm observational studies and randomized controlled trials are eagerly awaited to consolidate these promising developments in the field of this rare disease. (C) 2021 The Authors. Published by Elsevier Masson SAS on behalf of French Society of Pediatrics. Show less
Background: Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive neoplasm arising from the synovium of joints, bursae, and tendon sheaths affecting small and large joints. It... Show moreBackground: Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive neoplasm arising from the synovium of joints, bursae, and tendon sheaths affecting small and large joints. It represents a wide spectrum ranging from minimally symptomatic to massively debilitating. Most findings to date are mainly from small, retrospective case series, and thus the morbidity and actual impact of this rare disease remain to be elucidated. This study prospectively explores the management of TGCT in tertiary sarcoma centers.Methods: The TGCT Observational Platform Project registry was a multinational, multicenter, prospective observational study involving 12 tertiary sarcoma centers in 7 European countries, and 2 US sites. This study enrolled for 2 years all consecutive >= 18 years old patients, with histologically diagnosed primary or recurrent cases of diffuse-type TGCT. Patient demographic and clinical characteristics were collected at baseline and every 6 months for 24 months. Quality of life questionnaires (PROMIS-PF and EQ-5D) were also administered at the same time-points. Here we report baseline patient characteristics.Results: 166 patients were enrolled between November 2016 and March 2019. Baseline characteristics were: mean age 44 years (mean age at disease onset: 39 years), 139/166 (83.7%) had prior treatment, 71/166 patients (42.8%) had >= 1 recurrence after treatment of their primary tumor, 76/136 (55.9%) visited a medical specialist >= 5 times, 66/116 (56.9%) missed work in the 24 months prior to baseline, and 17/166 (11.6%) changed employment status or retired prematurely due to disease burden. Prior treatment consisted of surgery (i.e., arthroscopic, open synovectomy) (128/166; 77.1%) and systemic treatments (52/166; 31.3%) with imatinib (19/52; 36.5%) or pexidartinib (27/52; 51.9%). Treatment strategies at baseline visits consisted mainly of watchful waiting (81/166; 48.8%), surgery (41/166; 24.7%), or targeted systemic therapy (37/166; 22.3%). Patients indicated for treatment reported more impairment compared to patients indicated for watchful waiting: worst stiffness NRS 5.16/3.44, worst pain NRS 6.13/5.03, PROMIS-PF 39.48/43.85, and EQ-5D VAS 66.54/71.85.Conclusion: This study confirms that diffuse-type TGCT can highly impact quality of life. A prospective observational registry in rare disease is feasible and can be a tool to collect curated-population reflective data in orphan diseases. Show less
