Global disease registries are critical to capturing common patient related information on rare illnesses, allowing patients and their families to provide information about their condition in a safe, accessible, and engaging manner that enables researchers to undertake critical research aimed at improving outcomes. Typically, English is the default language of choice for these global digital health platforms. Unfortunately, language barriers can significantly inhibit participation from non-English speaking participants. In addition, there is potential for compromises in data quality and completeness. In contrast, multinational commercial entities provide access to their websites in the local language of the country they are operating in, and often provide multiple options reflecting ethnic diversity. This paper presents a case study of how the Global Angelman Syndrome Registry (GASR) has used a novel approach to enable multiple language translations for its website. Using a \"semi-automated language translation\" approach, the GASR, which was originally launched in English in September 2016, is now available in several other languages. In 2020, the GASR adopted a novel approach using crowd-sourcing and machine translation tools leading to the availability of the GASR in Spanish, Traditional Chinese, Italian, and Hindi. As a result, enrolments increased by 124% percent for Spain, 67% percent for Latin America, 46% percent for Asia, 24% for Italy, and 43% for India. We describe our approach here, which we believe presents an opportunity for cost-effective and timely translations responsive to changes to the registry and helps build and maintain engagement with global disease communities.

Conventional excision of female genital skin cancers has high rates of local recurrence and morbidity. Few publications describe local recurrence rates (LRRs) and patient-reported outcomes (PROs) after Mohs micrographic surgery (MMS) for female genital skin cancers.
To evaluate LRRs, PROs, and interdisciplinary care after MMS for female genital skin cancers.
A retrospective case series was conducted of female genital skin cancers treated with MMS between 2006 and 2021 at an academic center. The primary outcome was local recurrence. Secondary outcomes were PROs and details of interdisciplinary care.
Sixty skin cancers in 57 patients were treated with MMS. Common diagnoses included squamous cell cancer (n = 26), basal cell cancer (n = 12), and extramammary Paget disease (n = 11). Three local recurrences were detected with a mean follow-up of 61.1 months (median: 48.8 months). Thirty-one patients completed the PROs survey. Most patients were satisfied with MMS (71.0%, 22/31) and reported no urinary incontinence (93.5%, 29/31). Eight patients were sexually active at follow-up and 75.0% (6/8) experienced no sexual dysfunction. Most cases involved interdisciplinary collaboration 71.7% (43/60).
Limitations include the retrospective single-center design, heterogeneous cohort, and lack of preoperative function data.
Incorporating MMS into interdisciplinary teams may help achieve low LRRs and satisfactory function after genital skin cancer surgery.

BACKGROUND: Patients Know Best (PKB) provides a patient portal with integrated, patient-controlled digital care records. Patient-controlled personal health records facilitate coordinated management of chronic disease through improved communications among, and about, patients across professional and organisational boundaries. An NHS foundation trust hospital has used PKB to support self-management in patients with inflammatory bowel disease; this paper presents a case study of usage.
METHODS: The stakeholder empowered adoption model provided a framework for consulting variously placed stakeholders. Qualitative interviews with clinical stakeholders and a patient survey.
RESULTS: Clinicians reported PKB to have enabled a new way of managing stable patients, this facilitated clinical and cost effective use of specialist nurses; improved two-way communications, and more optimal use of outpatient appointments and consultant time. The portal also facilitated a single, rationalised pathway for stable patients, enabling access to information and pro-active support. For patients, the system was a source of support when unwell and facilitated improved communication with specialists. Three main barriers to adoption were identified; these related to concerns over security, risk averse attitudes of users and problems with data integration.
CONCLUSIONS: Patient-controlled personal health records offer significant potential in supporting self-management. Digital connection to healthcare can help patients to understand their condition better and access appropriate, timely clinical advice.

Introduction The National Institute for Health and Care Excellence guidance Improving Supportive and Palliative Care for Adults with Cancer (2004) and the Cancer Reform Strategy (2007) support the premise that assessment and discussion of patients\' needs for physical, social, psychological, and spiritual wellbeing should be undertaken during oncology follow-up. We report the use of the Patient Concerns Inventory in a routine head and neck cancer clinic setting over a seven-year period, summarising the number of available clinics, the number of patients completing the inventory within a clinic, the range of clinical characteristics and the concerns they wanted to discuss. Methods The data were analysed from oncology follow-up clinics between 1 August 2007 and 10 December 2014. Audit approval was given by the Clinical Audit Department, University Hospital Aintree. Results There were 386 patients with 1198 inventories completed at 220 clinics, median 6 (range 4-7) per clinic. The most common concerns raised by patients across all the clinic consultations were dry mouth (34%), fear of recurrence (33%), sore mouth (26%), dental health (25%), chewing (22%) and fatigue/tiredness (21%). Conclusions The incorporation of the Patient Concerns Inventory as part of routine oncology clinics allows for a more patient initiated and focused consultation available to the majority of patients throughout their follow-up. The inventory allows for greater opportunity to provide holistic targeted multiprofessional intervention and support.

The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn.hms.harvard.edu. PMS_DN is a Patient Centric Outcomes Research Initiative (PCORI) where patients and their families are involved in all aspects of the management of patient data in driving research into PMS. To foster collaborative research, PMS_DN also makes patient aggregates from this knowledge available to authorized investigators using distributed research networks such as the PCORnet PopMedNet. PMS_DN is hosted on a scalable cloud based environment and complies with all patient data privacy regulations. As of October 31, 2016, PMS_DN integrates high-quality knowledge extracted from the clinical notes of 112 patients and curated genetic reports of 176 patients with preprocessed PRO data from 415 patients.

BACKGROUND: The purpose of this study was to assess the impact of an anti-gravity treadmill return to running programme on self-efficacy and subjective knee function following knee osteochondral surgery.
METHODS: A 39-year-old otherwise healthy female endurance runner with a left knee femoral cartilage grade 3-4 defect 3 cm2. The patient underwent single step arthroscopic microfracture with Bone Marrow Aspirate Concentrate. An AlterG® anti-gravity treadmill was used to manipulate loading during a graduated phased return to running over 8 weeks. Self-efficacy was evaluated using the Self-Efficacy for Rehabilitation outcomes scale (SER) and the Knee Self-Efficacy Scale (K-SES). Subjective knee function was evaluated using the Knee injury and Osteoarthritis Outcome Score (KOOS) and International Knee Documentation Committee Subjective Knee Form (IKDC).
RESULTS: The programme resulted in improvements in SER (57%), K-SES present (89%) and K-SES future (65%) self-efficacy domains. The IKDC score demonstrated a clinically important improvement with an increase from 62.1 in week 1-86.2 in week 8 (39%). Only the KOOS Sport/Rec subscale showed a clinically important improvement from week 1 to week 8.
CONCLUSIONS: The programme resulted in improved knee and rehabilitation self-efficacy and subjective knee function following osteochondral repair of the knee. This case report illustrates the importance of considering self-efficacy in rehabilitation after knee osteochondral surgery and highlights the potential role for anti-gravity treadmills in enhancing self-efficacy and subjective knee function in preparation for a return to sport.

To identify the most credible anchor-based minimal important differences (MIDs) for patient important outcomes in patients with degenerative knee disease, and to inform BMJ Rapid Recommendations for arthroscopic surgery versus conservative management DESIGN: Systematic review.
Estimates of anchor-based MIDs, and their credibility, for knee symptoms and health-related quality of life (HRQoL).
MEDLINE, EMBASE and PsycINFO.
We included original studies documenting the development of anchor-based MIDs for patient-reported outcomes (PROs) reported in randomised controlled trials included in the linked systematic review and meta-analysis and judged by the parallel BMJ Rapid Recommendations panel as critically important for informing their recommendation: measures of pain, function and HRQoL.
13 studies reported 95 empirically estimated anchor-based MIDs for 8 PRO instruments and/or their subdomains that measure knee pain, function or HRQoL. All studies used a transition rating (global rating of change) as the anchor to ascertain the MID. Among PROs with more than 1 estimated MID, we found wide variation in MID values. Many studies suffered from serious methodological limitations. We identified the following most credible MIDs: Western Ontario and McMaster University Osteoarthritis Index (WOMAC; pain: 12, function: 13), Knee injury and Osteoarthritis Outcome Score (KOOS; pain: 12, activities of daily living: 8) and EuroQol five dimensions Questionnaire (EQ-5D; 0.15).
We were able to distinguish between more and less credible MID estimates and provide best estimates for key instruments that informed evidence presentation in the associated systematic review and judgements made by the Rapid Recommendation panel.
CRD42016047912.

We compared same-day provider medical record documentation and interventions addressing depression and risk behaviors before and after delivering point-of-care patient-reported outcomes (PROs) feedback for patients who self-reported clinically relevant levels of depression or risk behaviors. During the study period (1 January 2006-15 October 2010), 2289 PRO assessments were completed by HIV-infected patients. Comparing the 8 months before versus after feedback implementation, providers were more likely to document depression (74% before vs. 87% after feedback, p = 0.02) in patients with moderate-to-severe depression (n = 317 assessments), at-risk alcohol use (41 vs. 64%, p = 0.04, n = 155) and substance use (60 vs. 80%, p = 0.004, n = 212). Providers were less likely to incorrectly document good adherence among patients with inadequate adherence after feedback (42 vs. 24%, p = 0.02, n = 205). While PRO feedback of depression and adherence were followed by increased provider intervention, other domains were not. Further investigation of factors associated with the gap between awareness and intervention are needed in order to bridge this divide.

BACKGROUND: Patient-reported outcomes and quality of life following mastectomy are not well understood. This study evaluates the quality of life following surgery for breast cancer and compares outcomes following breast-conserving surgery versus total mastectomy with or without reconstruction.
METHODS: A case-controlled cross-sectional study was conducted using the validated BREAST-Q™ questionnaire and a study-specific questionnaire to determine patient\'s views about surgical outcomes. Questionnaires were completed by patients following breast-conserving surgery and total mastectomy with or without reconstruction and by controls without breast cancer. A one-way ANOVA was used to compare mean BREAST-Q™ scores between groups and post hoc analysis using Tukey\'s and Kruskal-Wallis tests.
RESULTS: BREAST-Q™ questionnaires were completed by 400 women (123 controls, 97 breast conservations, 93 mastectomies without reconstruction, 87 mastectomies with reconstruction). Women who had undergone mastectomy and reconstruction had higher scores in satisfaction with breast and sexual well-being domains compared with women who had breast-conserving surgery, and women who had total mastectomy without reconstruction had the lowest scores in these two domains. There was no difference in psychosocial well-being between the groups. Women who had undergone breast-conserving surgery scored the lowest in the physical well-being chest domain and the majority reported breast asymmetry.
CONCLUSIONS: Our study suggests that women who undergo total mastectomy and breast reconstruction for cancer achieve a quality-of-life outcome that is at least as good as that following breast-conserving surgery. Furthermore, breast conservation has been found to be associated with lower physical well-being (i.e., more pain and discomfort) in the chest area and poorer sexual well-being outcomes.