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  1. Article ; Online: Anomalous anatomy-univentricular heart with three atrial appendages.

    Glatzel, Hannah / Kelion, Andrew / Orchard, Elizabeth

    European heart journal. Case reports

    2024  Volume 8, Issue 2, Page(s) ytad512

    Language English
    Publishing date 2024-02-13
    Publishing country England
    Document type Case Reports
    ISSN 2514-2119
    ISSN (online) 2514-2119
    DOI 10.1093/ehjcr/ytad512
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Assessing the Effect of Data Quality on Distance Estimation in Smartphone-Based Outdoor 6MWT.

    Caramaschi, Sara / Olsson, Carl Magnus / Orchard, Elizabeth / Molloy, Jackson / Salvi, Dario

    Sensors (Basel, Switzerland)

    2024  Volume 24, Issue 8

    Abstract: As a result of technological advancements, functional capacity assessments, such as the 6-minute walk test, can be performed remotely, at home and in the community. Current studies, however, tend to overlook the crucial aspect of data quality, often ... ...

    Abstract As a result of technological advancements, functional capacity assessments, such as the 6-minute walk test, can be performed remotely, at home and in the community. Current studies, however, tend to overlook the crucial aspect of data quality, often limiting their focus to idealised scenarios. Challenging conditions may arise when performing a test given the risk of collecting poor-quality GNSS signal, which can undermine the reliability of the results. This work shows the impact of applying filtering rules to avoid noisy samples in common algorithms that compute the walked distance from positioning data. Then, based on signal features, we assess the reliability of the distance estimation using logistic regression from the following two perspectives: error-based analysis, which relates to the estimated distance error, and user-based analysis, which distinguishes conventional from unconventional tests based on users' previous annotations. We highlight the impact of features associated with walked path irregularity and direction changes to establish data quality. We evaluate features within a binary classification task and reach an F1-score of 0.93 and an area under the curve of 0.97 for the user-based classification. Identifying unreliable tests is helpful to clinicians, who receive the recorded test results accompanied by quality assessments, and to patients, who can be given the opportunity to repeat tests classified as not following the instructions.
    Language English
    Publishing date 2024-04-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2052857-7
    ISSN 1424-8220 ; 1424-8220
    ISSN (online) 1424-8220
    ISSN 1424-8220
    DOI 10.3390/s24082632
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Analysis of a streamlined pathway for aortic surveillance for Turner syndrome in a single centre.

    Glatzel, Hannah / Njue, Faith / Turner, Helen E / Orchard, Elizabeth

    Clinical endocrinology

    2023  Volume 99, Issue 6, Page(s) 579–585

    Abstract: Background and objective: The risk of aortic dissection (AoD) is increased in women with Turner syndrome (TS) but predicting those with this heightened risk is difficult. In response to this, we sought to create a pathway to monitor TS patients to ... ...

    Abstract Background and objective: The risk of aortic dissection (AoD) is increased in women with Turner syndrome (TS) but predicting those with this heightened risk is difficult. In response to this, we sought to create a pathway to monitor TS patients to improve efficiency and resource utilisation in our dedicated TS clinic, and to monitor more closely those women thought to be at increased risk of AoD.
    Design and patients: Our pathway was designed based on evidence derived from International Guidelines for the management of aortic disease in women with TS. Women were divided according to those with known risk factors for AoD, and those with no known risk factors. These groups were further subdivided into 4 pathways depending on ascending aortic size which in-turn determined the frequency of outpatient appointments and imaging.
    Results: Out of the 168 patients included in the analysis, 7 have had ascending aorta replacements, all in the highest risk group. Of the remaining 4 patients in the highest risk groups: 1 dissected whilst awaiting planned aortic surgery, 1 is currently awaiting surgery, 1 has low body mass index, therefore, making her aorta proportionally larger but not necessitating surgery and one has declined surgery. No women changed pathways.
    Conclusion: The risk-stratified pathway safely allowed consolidation of resources to women perceived to be at highest risk of AoD (excluding pregnancy), supporting the efficacy of the pathway and allowing the diversion of resources to those most at risk of AoD.
    MeSH term(s) Pregnancy ; Humans ; Female ; Turner Syndrome/complications ; Aorta, Thoracic ; Aorta ; Aortic Dissection ; Aortic Diseases/etiology
    Language English
    Publishing date 2023-09-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 121745-8
    ISSN 1365-2265 ; 0300-0664
    ISSN (online) 1365-2265
    ISSN 0300-0664
    DOI 10.1111/cen.14968
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: App-Based Versus Standard Six-Minute Walk Test in Pulmonary Hypertension: Mixed Methods Study.

    Salvi, Dario / Poffley, Emma / Tarassenko, Lionel / Orchard, Elizabeth

    JMIR mHealth and uHealth

    2021  Volume 9, Issue 6, Page(s) e22748

    Abstract: Background: Pulmonary arterial hypertension (PAH) is a chronic disease of the pulmonary vasculature that can lead to heart failure and premature death. Assessment of patients with PAH includes performing a 6-minute walk test (6MWT) in clinics. We ... ...

    Abstract Background: Pulmonary arterial hypertension (PAH) is a chronic disease of the pulmonary vasculature that can lead to heart failure and premature death. Assessment of patients with PAH includes performing a 6-minute walk test (6MWT) in clinics. We developed a smartphone app to compute the walked distance (6MWD) indoors, by counting U-turns, and outdoors, by using satellite positioning.
    Objective: The goal of the research was to assess (1) accuracy of the indoor 6MWTs in clinical settings, (2) validity and test-retest reliability of outdoor 6MWTs in the community, (3) compliance, usability, and acceptance of the app, and (4) feasibility of pulse oximetry during 6MWTs.
    Methods: We tested the app on 30 PAH patients over 6 months. Patients were asked to perform 3 conventional 6MWTs in clinic while using the app in the indoor mode and one or more app-based 6MWTs in outdoor mode in the community per month.
    Results: Bland-Altman analysis of 70 pairs of conventional versus app-based indoor 6MWDs suggests that the app is sometimes inaccurate (14.6 m mean difference, lower and upper limit of agreement: -133.35 m to 162.55 m). The comparison of 69 pairs of conventional 6MWDs and community-based outdoor 6MWDs within 7 days shows that community tests are strongly related to those performed in clinic (correlation 0.89), but the interpretation of the distance should consider that differences above the clinically significant threshold are not uncommon. Analysis of 89 pairs of outdoor tests performed by the same patient within 7 days shows that community-based tests are repeatable (intraclass correlation 0.91, standard error of measurement 36.97 m, mean coefficient of variation 12.45%). Questionnaires and semistructured interviews indicate that the app is usable and well accepted, but motivation to use it could be affected if the data are not used for clinical decision, which may explain low compliance in 52% of our cohort. Analysis of pulse oximetry data indicates that conventional pulse oximeters are unreliable if used during a walk.
    Conclusions: App-based outdoor 6MWTs in community settings are valid, repeatable, and well accepted by patients. More studies would be needed to assess the benefits of using the app in clinical practice.
    Trial registration: ClinicalTrials.gov NCT04633538; https://clinicaltrials.gov/ct2/show/NCT04633538.
    MeSH term(s) Humans ; Hypertension, Pulmonary/diagnosis ; Mobile Applications ; Reproducibility of Results ; Walk Test ; Walking
    Language English
    Publishing date 2021-06-07
    Publishing country Canada
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2719220-9
    ISSN 2291-5222 ; 2291-5222
    ISSN (online) 2291-5222
    ISSN 2291-5222
    DOI 10.2196/22748
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Risk assessment for aortic dissection in Turner syndrome: The role of the aortic growth rate.

    Calanchini, Matilde / Bradley-Watson, James / McMillan, Fiona / Myerson, Saul / Fabbri, Andrea / Turner, Helen E / Orchard, Elizabeth

    Clinical endocrinology

    2024  Volume 100, Issue 3, Page(s) 269–276

    Abstract: Objective: The risk of aortic dissection (AoD) is increased in Turner syndrome (TS) but predicting those at risk is difficult. Based on scarce evidence, preventive aortic surgery is recommended when aortic diameter increases >5 mm/year. To investigate ... ...

    Abstract Objective: The risk of aortic dissection (AoD) is increased in Turner syndrome (TS) but predicting those at risk is difficult. Based on scarce evidence, preventive aortic surgery is recommended when aortic diameter increases >5 mm/year. To investigate the aortic growth rate in TS and TS-related conditions associated with aortic growth. We also reported our experience of women who suffered aortic dissection (AoD), and who had preventive aortic replacement.
    Methods: 151 adult TS were retrospectively identified. Women who had more than one transthoracic echocardiogram (TTE) after age 16 years were included in the aortic growth study. Aortic diameters at sinuses of Valsalva (SoV) and ascending aorta (AA) were analysed by two experts.
    Results: 70/151 women had more than one TTE (interscan interval 4.7 years). Mean aortic growth was 0.13 ± 0.59 mm/year at SoV and 0.23 ± 0.82 mm/year at AA. Known risk factors for aortic dilatation and TS-related conditions were not associated with aortic growth. 4/151 women experienced AoD (age 25±8 years): two had paired scans for aortic growth, which was 0.67 mm/year at both SoV and AA in the first woman, and 11 mm/year (SoV) and 4 mm/year (AA) in the second. Only 1/4 of women with AoD survived; she used a TS cardiac-alert card to inform emergency personnel about her risk of AoD. 5/151 had a preventive aortic replacement, but one died post-operatively.
    Conclusions: Mean aortic growth in our TS population was increased compared to non-TS women and was not associated with currently known risk factors for AoD, suggesting that aortic growth rate itself could be a useful variable to stratify who is at risk for AoD.
    MeSH term(s) Adult ; Female ; Humans ; Adolescent ; Young Adult ; Turner Syndrome/complications ; Turner Syndrome/epidemiology ; Retrospective Studies ; Aortic Dissection ; Aortic Diseases/complications ; Aortic Diseases/epidemiology ; Risk Assessment
    Language English
    Publishing date 2024-01-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 121745-8
    ISSN 1365-2265 ; 0300-0664
    ISSN (online) 1365-2265
    ISSN 0300-0664
    DOI 10.1111/cen.15017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Left main stem fistula masquerading as an atrial septal defect in a gentleman with Schuurs-Hoeijmakers syndrome.

    Crawford, William / Kelion, Andrew / Richens, Trevor / Orchard, Elizabeth

    European heart journal. Case reports

    2020  Volume 5, Issue 1, Page(s) ytaa420

    Language English
    Publishing date 2020-12-25
    Publishing country England
    Document type Journal Article
    ISSN 2514-2119
    ISSN (online) 2514-2119
    DOI 10.1093/ehjcr/ytaa420
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: The Mobile-Based 6-Minute Walk Test: Usability Study and Algorithm Development and Validation.

    Salvi, Dario / Poffley, Emma / Orchard, Elizabeth / Tarassenko, Lionel

    JMIR mHealth and uHealth

    2020  Volume 8, Issue 1, Page(s) e13756

    Abstract: Background: The 6-min walk test (6MWT) is a convenient method for assessing functional capacity in patients with cardiopulmonary conditions. It is usually performed in the context of a hospital clinic and thus requires the involvement of hospital staff ... ...

    Abstract Background: The 6-min walk test (6MWT) is a convenient method for assessing functional capacity in patients with cardiopulmonary conditions. It is usually performed in the context of a hospital clinic and thus requires the involvement of hospital staff and facilities, with their associated costs.
    Objective: This study aimed to develop a mobile phone-based system that allows patients to perform the 6MWT in the community.
    Methods: We developed 2 algorithms to compute the distance walked during a 6MWT using sensors embedded in a mobile phone. One algorithm makes use of the global positioning system to track the location of the phone when outdoors and hence computes the distance travelled. The other algorithm is meant to be used indoors and exploits the inertial sensors built into the phone to detect U-turns when patients walk back and forth along a corridor of fixed length. We included these algorithms in a mobile phone app, integrated with wireless pulse oximeters and a back-end server. We performed Bland-Altman analysis of the difference between the distances estimated by the phone and by a reference trundle wheel on 49 indoor tests and 30 outdoor tests, with 11 different mobile phones (both Apple iOS and Google Android operating systems). We also assessed usability aspects related to the app in a discussion group with patients and clinicians using a technology acceptance model to guide discussion.
    Results: The mean difference between the mobile phone-estimated distances and the reference values was -2.013 m (SD 7.84 m) for the indoor algorithm and -0.80 m (SD 18.56 m) for the outdoor algorithm. The absolute maximum difference was, in both cases, below the clinically significant threshold. A total of 2 pulmonary hypertension patients, 1 cardiologist, 2 physiologists, and 1 nurse took part in the discussion group, where issues arising from the use of the 6MWT in hospital were identified. The app was demonstrated to be usable, and the 2 patients were keen to use it in the long term.
    Conclusions: The system described in this paper allows patients to perform the 6MWT at a place of their convenience. In addition, the use of pulse oximetry allows more information to be generated about the patient's health status and, possibly, be more relevant to the real-life impact of their condition. Preliminary assessment has shown that the developed 6MWT app is highly accurate and well accepted by its users. Further tests are needed to assess its clinical value.
    MeSH term(s) Algorithms ; Cell Phone ; Humans ; Mobile Applications/standards ; Walk Test ; Walking
    Language English
    Publishing date 2020-01-03
    Publishing country Canada
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Validation Study
    ZDB-ID 2719220-9
    ISSN 2291-5222 ; 2291-5222
    ISSN (online) 2291-5222
    ISSN 2291-5222
    DOI 10.2196/13756
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Tumour occurrence in women with Turner syndrome: A narrative review and single-centre case series.

    Mathara Diddhenipothage, Shani A D / Goindoo, Ryan J / Bragg, Fiona / Orchard, Elizabeth / Shears, Deborah / Calanchini, Matilde / Turner, Helen E

    Clinical endocrinology

    2023  Volume 99, Issue 1, Page(s) 64–72

    Abstract: Background: Population studies suggest cancer morbidity may be different in Turner syndrome (TS) compared to the background female population. However, significant variability is observed in cancer associations likely due to heterogeneity in patient ... ...

    Abstract Background: Population studies suggest cancer morbidity may be different in Turner syndrome (TS) compared to the background female population. However, significant variability is observed in cancer associations likely due to heterogeneity in patient cohorts. We explored the prevalence and patterns of cancer amongst a cohort of women with TS attending a dedicated TS clinic.
    Methods: Retrospective analysis of the patient database was performed to identify TS women who developed cancer. Population data (available before 2015) from the National Cancer Registration and Analysis Service database were used for comparison.
    Results: Out of 156 TS women, median age of 32 (range 18-73) years, 9 (5.8%) had a recorded cancer diagnosis. Types of cancers were, bilateral gonadoblastoma, type 1 gastric neuroendocrine tumour (NET), appendiceal-NET, gastrointestinal stromal tumour, plasma cell dyscrasia, synovial sarcoma, cervical cancer, medulloblastoma and aplastic anaemia. Median age at cancer diagnosis was 35 (range 7-58) years and two were detected incidentally. Five women had 45,X karyotype, three received growth hormone treatment and all except one received oestrogen replacement therapy. The cancer prevalence of the background age-matched female population was 4.4%.
    Conclusions: We confirm the previous observations that women with TS do not appear to be at overall increased risk of common malignancies. Our small cohort showed a spectrum of rare malignancies that are not typically associated with TS, except for a single patient with a gonadoblastoma. The slightly higher prevalence of cancer in our cohort might simply represent increased cancer prevalence in the background population, or might be related to small sample size and regular monitoring of these women due to TS per se.
    MeSH term(s) Humans ; Male ; Female ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Ovarian Neoplasms ; Turner Syndrome ; Retrospective Studies
    Language English
    Publishing date 2023-03-20
    Publishing country England
    Document type Review ; Journal Article
    ZDB-ID 121745-8
    ISSN 1365-2265 ; 0300-0664
    ISSN (online) 1365-2265
    ISSN 0300-0664
    DOI 10.1111/cen.14910
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: App-Based Versus Standard Six-Minute Walk Test in Pulmonary Hypertension

    Salvi, Dario / Poffley, Emma / Tarassenko, Lionel / Orchard, Elizabeth

    JMIR mHealth and uHealth, Vol 9, Iss 6, p e

    Mixed Methods Study

    2021  Volume 22748

    Abstract: BackgroundPulmonary arterial hypertension (PAH) is a chronic disease of the pulmonary vasculature that can lead to heart failure and premature death. Assessment of patients with PAH includes performing a 6-minute walk test (6MWT) in clinics. We developed ...

    Abstract BackgroundPulmonary arterial hypertension (PAH) is a chronic disease of the pulmonary vasculature that can lead to heart failure and premature death. Assessment of patients with PAH includes performing a 6-minute walk test (6MWT) in clinics. We developed a smartphone app to compute the walked distance (6MWD) indoors, by counting U-turns, and outdoors, by using satellite positioning. ObjectiveThe goal of the research was to assess (1) accuracy of the indoor 6MWTs in clinical settings, (2) validity and test-retest reliability of outdoor 6MWTs in the community, (3) compliance, usability, and acceptance of the app, and (4) feasibility of pulse oximetry during 6MWTs. MethodsWe tested the app on 30 PAH patients over 6 months. Patients were asked to perform 3 conventional 6MWTs in clinic while using the app in the indoor mode and one or more app-based 6MWTs in outdoor mode in the community per month. ResultsBland-Altman analysis of 70 pairs of conventional versus app-based indoor 6MWDs suggests that the app is sometimes inaccurate (14.6 m mean difference, lower and upper limit of agreement: –133.35 m to 162.55 m). The comparison of 69 pairs of conventional 6MWDs and community-based outdoor 6MWDs within 7 days shows that community tests are strongly related to those performed in clinic (correlation 0.89), but the interpretation of the distance should consider that differences above the clinically significant threshold are not uncommon. Analysis of 89 pairs of outdoor tests performed by the same patient within 7 days shows that community-based tests are repeatable (intraclass correlation 0.91, standard error of measurement 36.97 m, mean coefficient of variation 12.45%). Questionnaires and semistructured interviews indicate that the app is usable and well accepted, but motivation to use it could be affected if the data are not used for clinical decision, which may explain low compliance in 52% of our cohort. Analysis of pulse oximetry data indicates that conventional pulse oximeters are unreliable if used during a walk. ...
    Keywords Information technology ; T58.5-58.64 ; Public aspects of medicine ; RA1-1270
    Subject code 616
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher JMIR Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Ascending aortic dissection in a pregnant patient with neonatally repaired coarctation of aorta and bicuspid aortic valve.

    Cassar, Mark Philip / Shabbir, Asad / Orchard, Elizabeth / Stirrup, James

    BMJ case reports

    2019  Volume 12, Issue 12

    Abstract: Aortic dissection is characterised by a tear in the intimal and medial layers of the endovascular aortic wall which propagates distally. Here, we discuss the case of a 35-year-old woman who was 37 weeks pregnant and presented with dizziness and blurred ... ...

    Abstract Aortic dissection is characterised by a tear in the intimal and medial layers of the endovascular aortic wall which propagates distally. Here, we discuss the case of a 35-year-old woman who was 37 weeks pregnant and presented with dizziness and blurred vision. She had a history of a neonatal end-to-end repair of a coarctation of aorta, a known bicuspid aortic valve and a dilated ascending aorta under surveillance. A transthoracic echocardiogram revealed an ascending aortic dissection. An emergency CT aortogram was performed which confirmed the diagnosis. The patient underwent emergency caesarean section and aortic surgery, with a good outcome for mother and baby. The case highlights the atypical nature of presentation and the absence of haemodynamic instability. Atypical and unexplained symptoms on a background of congenital heart disease should trigger a referral to cardiology with thorough investigation, often with echocardiography, to exclude rare and life-threatening complications.
    MeSH term(s) Adult ; Aneurysm, Dissecting/diagnostic imaging ; Aneurysm, Dissecting/surgery ; Aorta/abnormalities ; Aorta/diagnostic imaging ; Aorta/pathology ; Aorta/surgery ; Aortic Coarctation/surgery ; Aortic Valve/abnormalities ; Bicuspid Aortic Valve Disease ; Cesarean Section/methods ; Computed Tomography Angiography/methods ; Dizziness/diagnosis ; Dizziness/etiology ; Echocardiography, Transesophageal/methods ; Female ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/surgery ; Heart Valve Diseases/diagnosis ; Humans ; Pregnancy ; Treatment Outcome ; Vision Disorders/diagnosis ; Vision Disorders/etiology
    Language English
    Publishing date 2019-12-29
    Publishing country England
    Document type Case Reports ; Journal Article ; Video-Audio Media
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2019-233367
    Database MEDical Literature Analysis and Retrieval System OnLINE

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