The patient-reported experience of living with Wilson disease

Aim: This research was conducted to collect patient-reported data on the experience of living with Wilson disease and to broaden the existing knowledge of a rare neurometabolic disease with varied clinical manifestations. Materials & methods: Adult patients with Wilson disease or caregivers were recruited through a Wilson disease association or advocacy group, and asked to complete an online survey that assessed various aspects of living with Wilson disease. Survey data were analyzed descriptively. Results: 21 adults with Wilson disease completed the survey. Respondents reported experiencing signs, symptoms and diagnoses related to movement (e.g., involuntary muscle contractions [n = 9, 42.9%]), cognition (e.g., anxiety [n = 15, 71.4%]) and liver problems. Respondents most frequently reported medication regimen and financial burden as the most bothersome impacts of Wilson disease. Conclusion: The data expand the existing knowledge of this rare neurometabolic disease with heterogeneous clinical manifestations.

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Comparison of patient self-reported data to physician-reported data in eosinophilic granulomatosis with polyangiitis (Preprint)

10.2196/preprints.27273 ◽

2021 ◽

Author(s):

Irena Doubelt ◽

Jason M. Springer ◽

Tanaz A. Kermani ◽

Antoine G. Sreih ◽

Cristina Burroughs ◽

...

Keyword(s):

Granulomatosis With Polyangiitis ◽

Clinical Manifestations ◽

The United States ◽

Research Network ◽

Eosinophilic Granulomatosis With Polyangiitis ◽

American College Of Rheumatology ◽

Organ Systems ◽

Patient Reported ◽

Reported Data ◽

Eosinophilic Granulomatosis

BACKGROUND Patient-based registries can help advance research in rare diseases such as eosinophilic granulomatosis with polyangiitis (EGPA), a complex, multi-organ form of anti-cytoplasm neutrophil antibody (ANCA)-associated vasculitis. OBJECTIVE To compare patient-reported vs. physician-reported manifestations, treatments, and outcomes for patients with EGPA. METHODS Comparative analysis of patients ≥18 years with EGPA in Canada or the United States from two separate cohorts: i) The Vasculitis Patient-Powered Research Network (VPPRN), a self-enrolled, secure portal with patient-entered data updated quarterly (2013-2019), vs. ii) The Vasculitis Clinical Research Consortium (VCRC) observational studies, a physician-entered database (2003-2019) of patients who fulfilled the 1990 American College of Rheumatology classification criteria for EGPA. Studied parameters included demographics, clinical manifestations, ANCA status, treatments, and relapses. RESULTS Data from 195 patients with a validated diagnosis of EGPA in the VPPRN and 354 patients enrolled in the VCRC were analyzed. Compared to the VCRC cohort, the patients in the VPPRN cohort were more commonly female (69.2% vs. 59.0% in the VCRC cohort; P =.02), younger at diagnosis (47.3 vs. 50.0 years; P =.03), reported similar frequencies of asthma (96.2% vs 92.9% in VCRC; P =.13), cardiac manifestations (28.8% vs 21.2%; P =.06), but less frequent lung manifestations other than asthma, and more frequent disease manifestations in all other organ systems. ANCA positivity was 48.9% in the VPPRN patients vs. 38.9% (P=.05) in the VCRC cohort. Relapsing disease after study enrollment was reported in 32.3% patients in the VPPRN compared 35.7% of patients in the VCRC. Most therapies (glucocorticoids, cyclophosphamide, mepolizumab) were used at similar frequencies in both groups, except for rituximab with VPPRN patients reporting more use than VCRC cohort (24.1% vs. 10.5%; P =<.001). CONCLUSIONS Patients with EGPA generally report having more manifestations of disease than physicians report for patients with EGPA. These differences imply the need to reconsider how patient- and physician-reported data are collected for the study of EGPA, and reevaluate disease specific definitions. CLINICALTRIAL ClinicalTrials.gov: (1) VCRC Longitudinal Study (LS) NCT00315380 https://clinicaltrials.gov/ct2/show/NCT00315380 and (2) One-Time DNA (OT) study NCT01241305 https://clinicaltrials.gov/ct2/show/NCT01241305

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Neurofibromatosis Clinic: A Report on Patient Demographics and Evaluation of the Clinic

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2016.326 ◽

2016 ◽

Vol 44 (5) ◽

pp. 577-588

Author(s):

Alireza Mansouri ◽

Saber Ghadakzadeh ◽

Talha Maqbool ◽

Carolina Barnett ◽

Karolyn Au ◽

...

Keyword(s):

Immune System ◽

Clinical Data ◽

Single Gene ◽

Clinical Manifestations ◽

Neurofibromatosis Type ◽

Cross Sectional ◽

Canadian Population ◽

Patient Reported ◽

One Year ◽

Reported Data

AbstractBackground: Neurofibromatosis type 1 (NF1) is a common single-gene disorder. A multidisciplinary approach to the management of NF1 patients is necessitated by the heterogeneity of clinical manifestations. Although multidisciplinary paediatric clinics have been well established, there is a dearth of such resources for adults with NF1. Herein we report our one-year institutional experience with a multidisciplinary adult NF1 clinic. Methods: A multidisciplinary team was assembled, and an NF Patient Registry Initiative questionnaire was adapted to collect patient-reported data during clinics. Multiple databases were searched to identify publications pertaining to the experience of other multidisciplinary NF1 clinics focusing on adult patients. Data on patient epidemiology and clinical staff were compared to our data. Results: A total of 77 patients were scheduled, and 68 attended the clinic, of whom 66 completed the intake questionnaire. The demographic and clinical data from this Canadian population are mostly consistent with previous reports, with some exceptions. Clinical data related to immune system involvement such as asthma, airway/breathing-related difficulties or allergies were striking in our NF1 population. Six relevant published reports of other NF1 clinics were identified. Reports from these studies pertained to periods ranging from 10 to 38 months, and the number of adults assessed ranged from 19 to 177 patients. Conclusions: The structure of our clinic and the patient volume are comparable to those of other established centres found in the literature. Our data offer valuable cross-sectional prevalence statistics in the Canadian population. The patient-reported data concerning involvement of the immune system contribute to an emerging recognized medical concern within the NF1 population and warrant further clinical and basic investigation.

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Patient-Reported Financial Burden in Thyroid Cancer

Journal of Surgical Research ◽

10.1016/j.jss.2021.03.051 ◽

2021 ◽

Vol 266 ◽

pp. 160-167

Author(s):

Jordan M. Broekhuis ◽

Chun Li ◽

Hao Wei Chen ◽

Natalia Chaves ◽

Sarah Duncan ◽

...

Keyword(s):

Thyroid Cancer ◽

Financial Burden ◽

Patient Reported

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P89 Patient reported comorbidity is not a reliable data source: a systematic review of the literature

BJS Open ◽

10.1093/bjsopen/zrab032.088 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

Author(s):

Chung Mun Alice Lin ◽

Alexander Orman ◽

Nicholas D Clement ◽

David J Deehan ◽

Chung M A Lin

Keyword(s):

Medical Record ◽

Meta Analysis ◽

Analysis Data ◽

Fundamental Factor ◽

Resource Limitations ◽

Patient Reported ◽

Data Source ◽

Reported Data ◽

Operative Assessment ◽

Source Of Information

Abstract Introduction There is currently an increased demand for elective orthopaedic surgery. However, due to the ever-growing financial, time and resource limitations, there is a pressing need to identify those who would benefit most from surgery but with the lowest risk of complications. Comorbidities are a fundamental factor in this decision and the traditional way to ascertain this is through medical record data abstraction during pre-operative assessment. However, this can be time consuming and expensive. We therefore set out to establish whether patient reported comorbidities are reliable as a principal source of information. Method Searches were performed on PubMed and Medline, and citations independently screened. Included studies were published between 2010 to 2020 assessing the reliability of at least one patient reported comorbidity against their medical record or clinical assessment as gold standard. Cohen’s kappa coefficient values were grouped into systems and a meta-analysis performed comparing the reliability between studies. Results Meta-analysis data showed poor-to-moderate reliability for diseases in cardiovascular, musculoskeletal, neurological and respiratory systems as well as for malignancy and depression. Endocrine diseases showed good-to-excellent reliability. Factors found to affect the concordance included sex, age, ethnicity, education, living alone, marital status, number or severity of comorbidities, mental health and disability. Conclusion Our study showed poor-to-moderate reliability for all systems except endocrine, consisting of thyroid disease and diabetes mellitus, which demonstrated good-to-excellent reliability. Although patient reported data is useful and can facilitate a complete pre-operative overview of the patient, it is not reliable enough to be used as a standalone measure.

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What is the optimal outcome after endoscopic sinus surgery in the treatment of chronic rhinosinusitis? A consultation of Canadian experts

Journal of Otolaryngology - Head and Neck Surgery ◽

10.1186/s40463-021-00519-9 ◽

2021 ◽

Vol 50 (1) ◽

Author(s):

Nadim Saydy ◽

Sami P. Moubayed ◽

Marie Bussières ◽

Arif Janjua ◽

Shaun Kilty ◽

...

Keyword(s):

Chronic Rhinosinusitis ◽

Endoscopic Sinus Surgery ◽

Patient Reported Outcome ◽

Sinus Surgery ◽

Structured Interviews ◽

Subjective Data ◽

Operative Outcomes ◽

Patient Reported ◽

Definition Of Success ◽

Reported Data

Abstract Objectives Many experts feel that in the absence of well-defined goals for success, they have an easier time identifying failure. As success ought to not be defined only by absence of failure, we aimed to define optimal outcomes for endoscopic sinus surgery (ESS) in chronic rhinosinusitis (CRS) by obtaining expert surgeon perspectives. Methods A total of 12 surgeons participated in this targeted consultation. Face to face semi-structured interviews were performed with expert surgeons in the field of CRS and ESS. General impressions and personal definitions of acceptable operative success and optimal operative outcomes were compiled and summarized. Results According to an expert survey, patients’ main objectives are an improvement in their chief complain, a general improvement in quality of life (QoL), and a better overall symptomatic control. The most important aspects of endoscopy for defining a successful intervention were an adequate mucus circulation, a healthy mucosa, minimal edema, and patency of all explored cavities or ostia. In the assessment of surgical outcomes, it was determined that both objective and patient reported data must be carefully examined, with more attention given to subjective outcomes. Conclusions According to data gathered from a Canadian expert consultation, a definition of success must be based on both subjective data and nasal endoscopy. We propose to define an acceptable outcome as either a subjective improvement of at least the minimal clinically improvement difference of a validated patient reported outcome questionnaire, along with a satisfactory endoscopic result (1) or a complete subjective resolution with a sub-optimal endoscopy (2). Graphical abstract

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PSY51 Epidemiology and Treatment Patterns of inhibitor Hemophilia in Russia: Patient-reported Data

Value in Health ◽

10.1016/j.jval.2011.08.1023 ◽

2011 ◽

Vol 14 (7) ◽

pp. A419

Author(s):

P.A. Vorobyev ◽

L. Krasnova ◽

O. Borisenko ◽

Y. Zhulyov ◽

L. Bezmelnitsyna

Keyword(s):

Treatment Patterns ◽

Patient Reported ◽

Reported Data

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Ovarian cancer recurrence detection may not require in-person physical examination: an MSK team ovary study

International Journal of Gynecological Cancer ◽

10.1136/ijgc-2021-002885 ◽

2021 ◽

pp. ijgc-2021-002885

Author(s):

Jacqueline Feinberg ◽

Karen Carthew ◽

Emily Webster ◽

Kaity Chang ◽

Nita McNeil ◽

...

Keyword(s):

Ovarian Cancer ◽

Physical Examination ◽

Tumor Marker ◽

Financial Burden ◽

Cancer Recurrence ◽

Cancer Surveillance ◽

Detection Methods ◽

Surveillance Program ◽

Patient Reported ◽

Primary Means

ObjectiveGiven the inconvenience and financial burden of frequent ovarian cancer surveillance and the risks of in-person visits due to COVID-19, which have led to the acceleration of telehealth adaptation, we sought to assess the role of in-person physical examination for the detection of ovarian cancer recurrence among patients enrolled in a routine surveillance program.MethodsThis was a retrospective study of patients initially seen from January 2015 to December 2017 who experienced ovarian cancer recurrence during first clinical remission. Descriptive statistics and bivariate analyses were performed to compare differences in detection methods and in patient and disease characteristics.ResultsAmong 147 patients who met our inclusion criteria, there were no recurrences detected by physical examination alone. Forty-six (31%) patients had recurrence first detected by tumor marker, 81 (55%) by radiographic scan, 17 (12%) by presentation of new symptoms, and 3 (2%) by biopsies taken during non-oncological surgery. One hundred and eleven patients (75%) had multiple positive findings at the time of recurrence. Of all 147 patients, 48 (33%) had symptoms, 21 (14%) had physical examination findings, 106 (72%) had increases in tumor markers, and 141 (96%) had changes on imaging.ConclusionsIn-person physical examination was not a primary means of detection for ovarian cancer recurrence for any patient. Substituting in-person visits for virtual visits that include patient-reported symptoms, alongside a regular surveillance protocol that includes tumor marker testing and imaging, may be a suitable approach for the detection of ovarian cancer recurrence while also reducing patient inconvenience and risks to health.

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Not All Patients with Mild Phenotype of Gaucher Disease (GD) Need Disease Specific Treatment As Reflected By Patients Reported Outcomes Measures

Blood ◽

10.1182/blood-2019-123000 ◽

2019 ◽

Vol 134 (Supplement_1) ◽

pp. 4712-4712

Author(s):

Shoshana Revel-Vilk ◽

Tama Dinur ◽

Majdolen Istaiti ◽

Dafna Frydman ◽

Michal Becker-Cohen ◽

...

Keyword(s):

Functional Status ◽

Gaucher Disease ◽

Research Funding ◽

Financial Burden ◽

Specific Therapy ◽

Specific Patient ◽

Mild Phenotype ◽

Patient Reported ◽

Disease Specific

The introduction of disease specific therapy for patients with type 1 Gaucher disease (GD) was a revolution in the management of patients, but not without significant cost to the patient and to society. The management of mildly effected patients is still debated, and reviews about GD as well as chapters in textbooks fail to emphasize the fact that some patients may remain untreated for many years without any GD-related complications. Patient reported outcome measures (PROMs) were developed as a way to ascertain patients' views of their symptoms, their functional status, and their health-related quality-of-life (HRQoL). In this study, we evaluated the responses to a GD -specific PROM of untreated patients with GD1 and compared them to patients on GD-specific therapy. Methods: A PROM survey was developed for GD including 15 questions; six Point Verbal Response Scale regarding the last month and nine Visual Analogue Scales (VAS) from 0-10 regarding the last week (Elstein D, et al. Molecular Genetics and Metabolism 2019;126:S52). The PROM survey was proven to be accurate in encompassing disease-specific patient concerns. A Hebrew translated version of the GD-PROM was sent via mobile phone survey to 400 adult patients with type 1 GD followed in our Gaucher Unit. Clinical data and treatment status were extracted from the clinical charts. T-test and Mann-Whitney U test were used to compare normally and non-normally distributed data in independent samples, respectively. IBM SPSS version 25 was used for analysis. Results were considered to be statistically significant when two-tailed P-values were ≤0.01. Results: A total of 181 patients responded (45% response rate) of whom 65 (36%) were followed for at least 5 years in our unit without receiving GD specific therapy, i.e. enzyme replacement therapy (ERT) and/or substrate reduction therapy (SRT). The median (range) age of patients, 49 (20-91) years, was not significantly different between treated and untreated patients. The percentage of patients with the N370S/N370S genotype was significantly higher in untreated patients [55/65 (85%)] compared to treated patients [67/116 (57%)]. Significantly more treated patients reported that GD had restricted their education/job (38, 34%) and fun activities (29,25%) compared to untreated patients, (4, 6.5%) and (2, 3%), respectively. Compared to untreated patients, treated patients were more worried to be an emotional burden on others [27 (23%) vs. 3 (5%)], of being financial burden on others [57 (50%) vs. 16 (25%)] and more concerned regarding the risk of bone disease [82 (74%) vs. 26 (40%)], and the risk of Parkinson disease [72 (64%) vs. 27 (42%)]. Treated patients had a significantly higher score on VAS for questions on swollen abdomen, fatigue, physical weakness, severity of bone pain and worry regarding the future over the past week compared to untreated patients (Table 1). Patients concern regarding the risk for cancer (32%) and VAS score for a question on depression were similar between groups. Conclusion:The GD-specific PROM survey shows that asymptomatic or mildly affected untreated patients with GD1 have good functional status and HRQoL, supporting our practice that not all patients with GD1 require disease-specific therapy. Still, we advise a periodic (annual or bi-annual) follow-up, preferably at a referral center. Inclusion of GD-specific PROMs in the periodic assessments is important for better understanding patients' perspectives. It is important to note that mildly affected and asymptomatic patients are mainly found among Ashkenazi Jews and from this aspect our cohort reflects patients' populations in Israel, USA, UK, etc. but less relevant to non-Jewish and particularly to Asian cohorts. With the expected increase in early diagnosis via parental and/or newborn screening the understanding that not all subjects diagnosed with GD needs disease-specific therapy is all the more important. Despite the expected differences between the more severely affected treated patients and the by definition milder untreated ones, still a high percentage of the treated patients show good HRQoL parameters, reflecting the overall success of ERT/SRT. Larger cohorts and further analysis will evaluate potential predictors for differences in PROMs within the treatment group. Disclosures Revel-Vilk: Sanofi: Honoraria, Other: Travel, Research Funding; Pfizer: Honoraria, Other: Travel, Research Funding; Takeda: Honoraria, Other: Travel, Research Funding; Prevail therapeutics: Honoraria, Other: Travel, Research Funding. Zimran:Prevail Therapeutics: Consultancy; TAKEDA: Honoraria; Centogene: Other: research grant; Targeted Cell Therapies: Consultancy; Pfize: Honoraria, Research Funding; Shire: Consultancy, Honoraria, Research Funding; Bio-events: Honoraria.

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Free-Living User Perspectives on Musculoskeletal Pain and Patient-Reported Mobility With Passive and Powered Prosthetic Ankle-Foot Components: A Pragmatic, Exploratory Cross-Sectional Study

Frontiers in Rehabilitation Sciences ◽

10.3389/fresc.2021.805151 ◽

2022 ◽

Vol 2 ◽

Author(s):

Andreas Kannenberg ◽

Arri R. Morris ◽

Karl D. Hibler

Keyword(s):

Musculoskeletal Pain ◽

Knee Pain ◽

Online Survey ◽

Rating Scales ◽

Living Environment ◽

Rank Test ◽

Recall Bias ◽

Free Living ◽

The Past ◽

Patient Reported

IntroductionStudies with a powered prosthetic ankle-foot (PwrAF) found a reduction in sound knee loading compared to passive feet. Therefore, the aim of the present study was to determine whether anecdotal reports on reduced musculoskeletal pain and improved patient-reported mobility were isolated occurrences or reflect a common experience in PwrAF users.MethodsTwo hundred and fifty individuals with transtibial amputation (TTA) who had been fitted a PwrAF in the past were invited to an online survey on average sound knee, amputated side knee, and low-back pain assessed with numerical pain rating scales (NPRS), the PROMIS Pain Interference scale, and the PLUS-M for patient-reported mobility in the free-living environment. Subjects rated their current foot and recalled the ratings for their previous foot. Recalled scores were adjusted for recall bias by clinically meaningful amounts following published recommendations. Statistical comparisons were performed using Wilcoxon's signed rank test.ResultsForty-six subjects, all male, with unilateral TTA provided data suitable for analysis. Eighteen individuals (39%) were current PwrAF users, whereas 28 subjects (61%) had reverted to a passive foot. After adjustment for recall bias, current PwrAF users reported significantly less sound knee pain than they recalled for use of a passive foot (−0.5 NPRS, p = 0.036). Current PwrAF users who recalled sound knee pain ≥4 NPRS with a passive foot reported significant and clinically meaningful improvements in sound knee pain (−2.5 NPRS, p = 0.038) and amputated side knee pain (−3 NPRS, p = 0.042). Current PwrAF users also reported significant and clinically meaningful improvements in patient-reported mobility (+4.6 points PLUS-M, p = 0.016). Individuals who had abandoned the PwrAF did not recall any differences between the feet.DiscussionCurrent PwrAF users reported significant and clinically meaningful improvements in patient-reported prosthetic mobility as well as sound knee and amputated side knee pain compared to recalled mobility and pain with passive feet used previously. However, a substantial proportion of individuals who had been fitted such a foot in the past did not recall improvements and had reverted to passive feet. The identification of individuals with unilateral TTA who are likely to benefit from a PwrAF remains a clinical challenge and requires further research.

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Examining relationships between sleep posture, waking spinal symptoms and quality of sleep: A cross sectional study

PLoS ONE ◽

10.1371/journal.pone.0260582 ◽

2021 ◽

Vol 16 (11) ◽

pp. e0260582

Author(s):

Doug Cary ◽

Angela Jacques ◽

Kathy Briffa

Keyword(s):

Sleep Quality ◽

Online Survey ◽

General Information ◽

Control Group ◽

Quality Of Sleep ◽

Cross Sectional ◽

Obstructive Sleep ◽

Patient Reported ◽

Sleep Posture

Introduction Research with a focus on sleep posture has been conducted in association with sleep pathologies such as insomnia and positional obstructive sleep apnoea. Research examining the potential role sleep posture may have on waking spinal symptoms and quality of sleep is however limited. The aims of this research were to compare sleep posture and sleep quality in participants with and without waking spinal symptoms. Methods Fifty-three participants (36 female) were, based on symptoms, allocated to one of three groups; Control (n = 20, 16 female), Cervical (n = 13, 10 female) and Lumbar (n = 20, 10 female). Participants completed an online survey to collect general information and patient reported outcomes and were videoed over two consecutive nights to determine sleep posture using a validated classification system including intermediate sleep postures. Results Participants in the symptomatic groups also reported a lower sleep quality than the Control group. Compared to Control group participants, those in the Cervical group had more frequent posture changes (mean (SD); 18.3(6.5) versus 23.6(6.6)), spent more time in undesirable/provocative sleep postures (median IQR; 83.8(16.4,105.2) versus 185.1(118.0,251.8)) minutes and had more long periods of immobility in a provocative posture, (median IQR: 0.5(0.0,1.5) versus 2.0 (1.5,4.0)). There were no significant differences between the Control and Lumbar groups in the number of posture changes (18.3(6.5) versus 22.9(9.1)) or the time spent in provocative sleep postures (0.5(0.0,1.5) versus 1.5(1.5,3.4)) minutes. Discussion This is the first study using a validated objective measure of sleep posture to compare symptomatic and Control group participants sleeping in their home environment. In general, participants with waking spinal symptoms spent more time in provocative sleep postures, and experienced poorer sleep quality.

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