To date, no hearing-specific self-report tool is available in Dutch to give insight into how deficits in auditory skills are experienced by a child in daily life or to examine the impact of hearing loss on children’s quality of life. Therefore, we aimed to translate and validate the Speech, Spatial, and Qualities of Hearing Scale (SSQ) and the Hearing Environments and Reflection on Quality of Life (HEAR-QL) Questionnaire for children and adolescents into Dutch. Translation of the questionnaires into Dutch was conducted by means of the forward-backward procedure. Participants were invited to complete the questionnaires digitally. We examined discriminant validity, internal consistency, and test-retest reliability. A total of 121 subjects between 7 and 18 years old were included, of which 54 normal hearing and 67 bilaterally hearing-impaired subjects. Hearing-impaired subjects were fitted with hearing aids, bone conductive devices and/or cochlear implants. All questionnaires were shown to significantly discriminate between the normal hearing and the hearing-impaired group. Satisfying internal consistency and good test-retest reliability were found. The Dutch SSQ and HEAR-QL questionnaires for children and adolescents appear to be valid and reliable self-report tools for management and follow-up of those with hearing loss.
Objective: To assess tumor behavior and the efficacy of active surveillance (AS) in patients with desmoid-type fibromatosis (DTF). Summary of Background Data: AS is recommended as initial management for DTF patients. Prospective data regarding the results of AS are lacking. Methods: In this multicenter prospective cohort study (NTR4714), adult patients with non-intraabdominal DTF were followed during an initial AS approach for 3 years. Tumor behavior was evaluated according to Response Evaluation Criteria in Solid Tumors. Cumulative incidence of the start of an active treatment and progression-free survival (PFS) were calculated using the Kaplan-Meier method. Factors predictive for start of active treatment were assessed by Cox regression analyses. Results: A total of 105 patients started with AS. Median tumor size at baseline was 4.1cm (interquartile range 3.0–6.6). Fifty-seven patients had a T41A CTNNB1 mutation; 14 patients a S45F CTNNB1 mutation. At 3 years, cumulative incidence of the start of active treatment was 30% (95% confidence interval [CI] 21–39) and PFS was 58% (95% CI 49–69). Median time to start active treatment and PFS were not reached at a median follow-up of 33.7 months. During AS, 32% of patients had stable disease, 28% regressed, and 40% demonstrated initial progression. Larger tumor size (≥5 cm; hazard ratio = 2.38 [95% CI 1.15–4.90]) and S45F mutation (hazard ratio = 6.24 [95% CI 1.92–20.30]) were associated with the start of active treatment. Conclusions: The majority DTF patients undergoing AS do not need an active treatment and experience stable or regressive disease, even after initial progression. Knowledge about the natural behavior of DTF will help to tailor the follow-up schedule to the individual patient.
Sporadic desmoid-type fibromatosis (DTF) is a rare, non-metastasising soft-tissue tumour. Patients can experience a variety of disease-specific issues related to the unpredictable clinical course and aggressiveness of DTF, which negatively impacts health-related quality of life (HRQoL). These DTF-specific issues are not captured by generic HRQoL tools. A 102-item provisional DTF-specific HRQoL tool, the DTF-QoL, was previously developed. The aim of this study was to pre-test the psychometric properties of the DTF-QoL by administering it together with the EORTC Quality of Life Questionnaire Core 30 (EORTC QLQ-C30) to 236 DTF patients from the United Kingdom and the Netherlands. Construct validity and reliability were determined based on factor analysis, multi-trait scaling analysis, Cronbach's alpha, and correlations with the EORTC QLQ-C30 scales. Ninety-six items were selected, conceptualised into three symptom scales, eleven disease-impact scales and six single items, together forming the final DTF-QoL. Scaling assumptions were fully or moderately met for ten out of fourteen scales. Cronbach's alpha ranged from 0.551-0.908. Most scales of the DTF-QoL were weakly or moderately correlated with the EORTC QLQ-C30. The DTF-QoL is a promising tool capturing the whole spectrum of DTF-specific issues. Implementation of the DTF-QoL in research and clinical practice will help to personalise HRQoL measurement and clinical care for DTF patients.
Background: Two observational studies on active surveillance (AS) in patients with extra-abdominal desmoid-type fibromatosis (DTF) provided the first prospective evidence supporting AS as frontline approach. Identification of prognostic factors for failure of AS and DTF tumour behaviour will help determine the appropriate treatment strategy. The aim of this study was to strengthen the evidence level of the results of previous prospective observational studies and identify potential prognostic factors for failure of AS and tumour behaviour.Methods: Data available on June, 30th 2022 from two prospective observational studies in Italy and the Netherlands (NCT02547831, inclusion 2013-2018; NTR4714, inclusion 2014-2018) in which DTF patients were followed for ≥3 years during an initial AS approach were collected. Patients ≥18 years, with primary extra-abdominal sporadic DTF and with CTNNB1 mutation available were eligible for the analyses. The primary study endpoint was treatment-free survival (TFS). Secondary endpoints included incidence of RECIST progression, regression post-RECIST progression, and RECIST regression.Findings: Three-year TFS and crude cumulative incidences (CCI) of RECIST progression, regression (any entity) post-RECIST progression, and RECIST regression (as first event) were 67% (60-74%), 42% (95% CI 35-49), 35% (95% CI 26-48), and 24% (95% CI 19-31), respectively. Larger (i.e., ≥50 mm) initial tumour size (P=0.027), ‘other’ CTNNB1 mutations (P=0.009), and extremity and head/neck tumour location (P=0.107) were associated with worse TFS at multivariable analysis. Younger age (P=0.021) was associated with higher incidences of RECIST progression.Interpretation: Initial tumour size, CTNNB1 mutation status, and tumour location should be integrated in the decision-making process for patients with extra-abdominal DTF, with more careful surveillance for patients with tumours carrying S45F or ‘other’ CTNNB1 mutations, extremity and head/neck location, and younger age.Funding: None declared.Declaration of Interest: The authors have declared no conflicts of interest.Ethical Approval: Data from DTF patients who were followed during AS in the Italian and Dutch prospective studies (NCT02547831, inclusion 2013-2018; NTR4714, inclusion 2014-2018) were collected. The study protocols were approved by Institutional Review Boards according to the applicable laws at the participating centres. Written informed consent was obtained from all patients. The study was done in accordance with the provisions of the Declaration of Helsinki.
The number of patients with adult congenital heart disease (ACHD) is rapidly increasing. To optimize patient management, there is a great need to accurately identify high-risk patients. Still, no biomarker has been firmly established as a clinically useful prognostic tool in this group. We studied the association of N-terminal pro-B-type natriuretic peptide (NT-proBNP), high-sensitive troponin-T, and growth-differentiation factor 15 with cardiovascular events in ACHD.Clinically stable patients with ACHD who routinely visited the outpatient clinic between April 2011 and April 2013 underwent clinical assessment, electrocardiography, echocardiography, and biomarker measurement (NT-proBNP, high-sensitive troponin-T, and growth-differentiation factor 15) at the time of study inclusion. Patients were prospectively followed for the occurrence of cardiovascular events (death, heart failure, hospitalization, arrhythmia, thromboembolic events, and reintervention). Survival curves were derived by the Kaplan-Meier method, and Cox regression was performed to investigate the relation between biomarkers and events with adjustment for multiple clinical and echocardiographic variables.In total, 595 patients were included (median age, 33 years; interquartile range, 25-41 years; 58% male; 90% New York Heart Association class I). Patients were followed during a median of 42 (interquartile range, 37-46) months. Of the 3 evaluated biomarkers, NT-proBNP in the upper quartile (>33.3 pmol/L) was most strongly associated with cardiovascular events (n=165, adjusted hazard ratio, 9.05 [3.24-25.3], P<0.001) and with death or heart failure (n=50, adjusted hazard ratio, 16.0 [2.04-126], P<0.001). When NT-proBNP was analyzed as a continuous variable, similar findings were retrieved. The cumulative proportion of patients with death and heart failure was only 1% in the lowest 2 NT-proBNP quartiles. Elevated NT-proBNP (>14 pmol/L), elevated high-sensitive troponin-T (>14 ng/L), and elevated growth-differentiation factor 15 (>1109 ng/L) identified those patients at highest risk of cardiovascular events (log-rank P<0.0001).NT-proBNP provides prognostic information beyond a conventional risk marker model in patients with ACHD and can reliably exclude the risk of death and heart failure. Elevated levels of NT-proBNP, high-sensitive troponin-T, and growth-differentiation factor 15 identify patients at highest risk of cardiovascular events. These biomarkers therefore may play an important role in the monitoring and management of patients with ACHD.
Left atrial (LA) size predicts cardiovascular outcome in chronic heart failure. Its prognostic value in adults with repaired tetralogy of Fallot (ToF) is unknown. This study therefore investigated the association of LA size and function with cardiovascular events in adults with ToF.Clinically stable adults with ToF who visited the outpatient clinic between 2011 and 2013 underwent echocardiography and were prospectively followed for the occurrence of death, heart failure, hospitalizations, arrhythmia, thromboembolic events, and re-interventions. LA maximal, minimal and pre-A wave volume, area and length were measured on the apical four-chamber view. Total, passive and active emptying fractions were calculated.In total, 134 patients were included (median age 35 [IQR 29-45] years, 65% male, 91% NYHA I). Median follow-up was 40 [IQR 32-47] months. Patients with a dilated LA (≥34mL/m2, 43%) were at higher risk of cardiovascular events (n=33, adjusted HR 2.48 [1.09-5.62], P=0.030). Analysis of LA volumes as continuous variables yielded similar conclusions. In addition, LA length (adjusted HR 2.49 [1.51-4.09], P<0.001), total emptying fraction (adjusted HR 0.96 [0.93-0.99], P=0.008), and active emptying fraction (adjusted HR 0.92 [0.87-0.96], P=0.001) were significantly associated with cardiovascular events. Standardized HRs indicated that LA length was the strongest prognostic marker. In addition, none of the patients with a normally sized LA died or developed heart failure.LA size and function can provide relevant prognostic information in clinically stable adults with repaired ToF. Especially LA length may be a valuable additional tool in the risk stratification of these patients.
Abstract Background Segmentations are crucial in medical imaging for morphological, volumetric, and radiomics biomarkers. Manual segmentation is accurate but not feasible in clinical workflow, while automatic segmentation generally performs sub-par. Purpose To develop a minimally interactive deep learning-based segmentation method for soft-tissue tumors (STTs) on CT and MRI. Material and methods The interactive method requires the user to click six points near the tumor’s extreme boundaries in the image. These six points are transformed into a distance map and serve, with the image, as input for a convolutional neural network. A multi-center public dataset with 514 patients and nine STT phenotypes in seven anatomical locations, with CT or T1-weighted MRI, was used for training and internal validation. For external validation, another public dataset was employed, which included five unseen STT phenotypes in extremities on CT, T1-weighted MRI, and T2-weighted fat-saturated (FS) MRI. Results Internal validation resulted in a dice similarity coefficient (DSC) of 0.85 ± 0.11 (mean ± standard deviation) for CT and 0.84 ± 0.12 for T1-weighted MRI. External validation resulted in DSCs of 0.81 ± 0.08 for CT, 0.84 ± 0.09 for T1-weighted MRI, and 0.88 ± 0.08 for T2-weighted FS MRI. Volumetric measurements showed consistent replication with low error internally (volume: 1 ± 28 mm 3 , r = 0.99; diameter: − 6 ± 14 mm, r = 0.90) and externally (volume: − 7 ± 23 mm 3 , r = 0.96; diameter: − 3 ± 6 mm, r = 0.99). Interactive segmentation time was considerably shorter (CT: 364 s, T1-weighted MRI: 258s) than manual segmentation (CT: 1639s, T1-weighted MRI: 1895s). Conclusion The minimally interactive segmentation method effectively segments STT phenotypes on CT and MRI, with robust generalization to unseen phenotypes and imaging modalities. Key Points Question Can this deep learning-based method segment soft-tissue tumors faster than can be done manually and more accurately than other automatic methods? Findings The minimally interactive segmentation method achieved accurate segmentation results in internal and external validation, and generalized well across soft-tissue tumor phenotypes and imaging modalities. Clinical relevance This minimally interactive deep learning-based segmentation method could reduce the burden of manual segmentation, facilitate the integration of imaging-based biomarkers (e.g., radiomics) into clinical practice, and provide a fast, semi-automatic solution for volume and diameter measurements (e.g., RECIST).
