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  1. Article ; Online: Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

    Müller, Annelieke R / Luijten, Michiel A J / Haverman, Lotte / de Ranitz-Greven, Wendela L / Janssens, Peter / Rietman, André B / Hoopen, Leontine W Ten / de Graaff, Laura C G / de Wit, Marie-Claire / Jansen, Anna C / Gipson, Tanjala / Capal, Jamie K / de Vries, Petrus J / van Eeghen, Agnies M

    BMC medicine

    2023  Volume 21, Issue 1, Page(s) 401

    Language English
    Publishing date 2023-10-23
    Publishing country England
    Document type Published Erratum
    ZDB-ID 2131669-7
    ISSN 1741-7015 ; 1741-7015
    ISSN (online) 1741-7015
    ISSN 1741-7015
    DOI 10.1186/s12916-023-03092-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

    Müller, Annelieke R / Luijten, Michiel A J / Haverman, Lotte / de Ranitz-Greven, Wendela L / Janssens, Peter / Rietman, André B / Ten Hoopen, Leontine W / de Graaff, Laura C G / de Wit, Marie-Claire / Jansen, Anna C / Gipson, Tanjala / Capal, Jamie K / de Vries, Petrus J / van Eeghen, Agnies M

    BMC medicine

    2023  Volume 21, Issue 1, Page(s) 298

    Abstract: Background: Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With improving ... ...

    Abstract Background: Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With improving patient-centered care and targeted therapies, patient-reported outcome measures (PROMs) are needed to measure the impact of TSC manifestations on daily functioning. The aim of this study was to develop a TSC-specific PROM for adults that captures the impact of TSC on physical functions, mental functions, activity and participation, and the social support individuals with TSC receive, called the TSC-PROM.
    Methods: COSMIN methodology was used to develop a self-reported and proxy-reported version. Development and validation consisted of the following studies: PROM development, content validity, structural validity, internal consistency, and construct validity. The International Classification of Functioning and Disability was used as a framework. Content validity was examined by a multidisciplinary expert group and cognitive interview study. Structural and construct validity, and internal consistency were examined in a large cohort, using confirmatory factor analysis, hypotheses testing, and Cronbach's alpha.
    Results: The study resulted in an 82-item self version and 75-item proxy version of the TSC-PROM with four subscales (physical functions 18 and 19 items, mental functions 37 and 28 items, activities and participation 13 and 14 items, social support 13 items, for self version and proxy version respectively). Sufficient results were found for structural validity with sufficient unidimensionality for each subscale. With regard to construct validity, 82% of the hypotheses were met for the self version and 59% for the proxy version. The PROM showed good internal consistency (Cronbach's alpha 0.78-0.97).
    Conclusions: We developed a PROM for adults with TSC, named TSC-PROM, showing sufficient evidence for reliability and validity that can be used in clinical and research settings to systematically gain insight into their experiences. It is the first PROM in TSC that addresses the impact of specific TSC manifestations on functioning, providing a valuable, patient-centered addition to the current clinical outcomes.
    MeSH term(s) Adult ; Humans ; Surveys and Questionnaires ; Tuberous Sclerosis/diagnosis ; Tuberous Sclerosis/psychology ; Reproducibility of Results ; Self Report ; Patient Reported Outcome Measures ; Quality of Life/psychology
    Language English
    Publishing date 2023-08-08
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2131669-7
    ISSN 1741-7015 ; 1741-7015
    ISSN (online) 1741-7015
    ISSN 1741-7015
    DOI 10.1186/s12916-023-03012-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Correction

    Annelieke R. Müller / Michiel A. J. Luijten / Lotte Haverman / Wendela L. de Ranitz-Greven / Peter Janssens / André B. Rietman / Leontine W.ten Hoopen / Laura C. G. de Graaff / Marie-Claire de Wit / Anna C. Jansen / Tanjala Gipson / Jamie K. Capal / Petrus J. de Vries / Agnies M. van Eeghen

    BMC Medicine, Vol 21, Iss 1, Pp 1-

    Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

    2023  Volume 1

    Keywords Medicine ; R
    Language English
    Publishing date 2023-10-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.

    Rosenberg, Anna G W / Wellink, Charlotte M / Tellez Garcia, Juan M / Pellikaan, Karlijn / Van Abswoude, Denise H / Davidse, Kirsten / Van Zutven, Laura J C M / Brüggenwirth, Hennie T / Resnick, James L / Van der Lely, Aart J / De Graaff, Laura C G

    Journal of clinical medicine

    2022  Volume 11, Issue 14

    Abstract: Prader−Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common underlying genotypes are paternal deletion (DEL) and maternal uniparental disomy (mUPD) ...

    Abstract Prader−Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common underlying genotypes are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided into type 1 (DEL-1) and (smaller) type 2 deletions (DEL-2). Most research has focused on behavioral, cognitive and psychological differences between the different genotypes. However, little is known about physical health problems in relation to genetic subtypes. In this cross-sectional study, we compare physical health problems and other clinical features among adults with PWS caused by DEL (N = 65, 12 DEL-1, 27 DEL-2) and mUPD (N = 65). A meta-analysis, including our own data, showed that BMI was 2.79 kg/m2 higher in adults with a DEL (p = 0.001). There were no significant differences between DEL-1 and DEL-2. Scoliosis was more prevalent among adults with a DEL (80% vs. 58%; p = 0.04). Psychotic episodes were more prevalent among adults with an mUPD (44% vs. 9%; p < 0.001). In conclusion, there were no significant differences in physical health outcomes between the genetic subtypes, apart from scoliosis and BMI. The differences in health problems, therefore, mainly apply to the psychological domain.
    Language English
    Publishing date 2022-07-12
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm11144033
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Outcomes of liver surgery: A decade of mandatory nationwide auditing in the Netherlands.

    de Graaff, Michelle R / Klaase, Joost M / Dulk, Marcel den / Buis, C I / Derksen, Wouter J M / Hagendoorn, Jeroen / Leclercq, Wouter K G / Liem, Mike S L / Hartgrink, Henk H / Swijnenburg, Rutger-Jan / Vermaas, M / Belt, Eric J Th / Bosscha, Koop / Verhoef, Cees / Olde Damink, Steven / Kuhlmann, Koert / Marsman, H M / Ayez, Ninos / van Duijvendijk, Peter /
    van den Boezem, Peter / Manusama, Eric R / Grünhagen, Dirk J / Kok, Niels F M

    European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology

    2024  Volume 50, Issue 6, Page(s) 108264

    Abstract: Background: In 2013, the nationwide Dutch Hepato Biliary Audit (DHBA) was initiated. The aim of this study was to evaluate changes in indications for and outcomes of liver surgery in the last decade.: Methods: This nationwide study included all ... ...

    Abstract Background: In 2013, the nationwide Dutch Hepato Biliary Audit (DHBA) was initiated. The aim of this study was to evaluate changes in indications for and outcomes of liver surgery in the last decade.
    Methods: This nationwide study included all patients who underwent liver surgery for four indications, including colorectal liver metastases (CRLM), hepatocellular carcinoma (HCC), and intrahepatic- and perihilar cholangiocarcinoma (iCCA - pCCA) between 2014 and 2022. Trends in postoperative outcomes were evaluated separately for each indication using multilevel multivariable logistic regression analyses.
    Results: This study included 8057 procedures for CRLM, 838 for HCC, 290 for iCCA, and 300 for pCCA. Over time, these patients had higher risk profiles (more ASA-III patients and more comorbidities). Adjusted mortality decreased over time for CRLM, HCC and iCCA, respectively aOR 0.83, 95%CI 0.75-0.92, P < 0.001; aOR 0.86, 95%CI 0.75-0.99, P = 0.045; aOR 0.40, 95%CI 0.20-0.73, P < 0.001. Failure to rescue (FTR) also decreased for these groups, respectively aOR 0.84, 95%CI 0.76-0.93, P = 0.001; aOR 0.81, 95%CI 0.68-0.97, P = 0.024; aOR 0.29, 95%CI 0.08-0.84, P = 0.021). For iCCA severe complications (aOR 0.65 95%CI 0.43-0.99, P = 0.043) also decreased. No significant outcome differences were observed in pCCA. The number of centres performing liver resections decreased from 26 to 22 between 2014 and 2022, while median annual volumes did not change (40-49, P = 0.66).
    Conclusion: Over time, postoperative mortality and FTR decreased after liver surgery, despite treating higher-risk patients. The DHBA continues its focus on providing feedback and benchmark results to further enhance outcomes.
    Language English
    Publishing date 2024-03-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 632519-1
    ISSN 1532-2157 ; 0748-7983
    ISSN (online) 1532-2157
    ISSN 0748-7983
    DOI 10.1016/j.ejso.2024.108264
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: We mind your step: understanding and preventing drop-out in the transfer from paediatric to adult tertiary endocrine healthcare.

    Davidse, Kirsten / van Staa, Anneloes / Geilvoet, Wanda / van Eck, Judith P / Pellikaan, Karlijn / Baan, Janneke / Hokken-Koelega, Anita C S / van den Akker, Erica L T / Sas, Theo / Hannema, Sabine E / van der Lely, Aart Jan / de Graaff, Laura C G

    Endocrine connections

    2022  Volume 11, Issue 5

    Abstract: Introduction: Transition from paediatric to adult endocrinology can be challenging for adolescents, their families and healthcare professionals. Previous studies have shown that up to 25% of young adults with endocrine disorders are lost to follow-up ... ...

    Abstract Introduction: Transition from paediatric to adult endocrinology can be challenging for adolescents, their families and healthcare professionals. Previous studies have shown that up to 25% of young adults with endocrine disorders are lost to follow-up after moving out of paediatric care. This poses a health risk for young adults, which can lead to serious and expensive medical acute and long-term complications.
    Methods: In order to understand and prevent dropout, we studied electronic medical records of patients with endocrine disorders. These patients were over 15 years old when they attended the paediatric endocrine outpatient clinic (OPC) of our hospital in 2013-2014 and should have made the transfer to adult care at the time of the study.
    Results: Of 387 adolescents, 131 had an indication for adult follow-up within our university hospital. Thirty-three (25%) were lost to follow-up. In 24 of them (73%), the invitation for the adult OPC had never been sent. We describe the failures in logistic processes that eventually led to dropout in these patients.
    Conclusion: We found a 25% dropout during transfer from paediatric to adult tertiary endocrine care. Of all dropouts, 73% could be attributed to the failure of logistic steps. In order to prevent these dropouts, we provide practical recommendations for patients and paediatric and adult endocrinologists.
    Language English
    Publishing date 2022-05-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 2668428-7
    ISSN 2049-3614
    ISSN 2049-3614
    DOI 10.1530/EC-22-0025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous

    Pellikaan, Karlijn / van Woerden, Geeske M / Kleinendorst, Lotte / Rosenberg, Anna G W / Horsthemke, Bernhard / Grosser, Christian / van Zutven, Laura J C M / van Rossum, Elisabeth F C / van der Lely, Aart J / Resnick, James L / Brüggenwirth, Hennie T / van Haelst, Mieke M / de Graaff, Laura C G

    Genes

    2021  Volume 12, Issue 6

    Abstract: Prader-Willi syndrome (PWS) is a rare genetic condition characterized by hypotonia, intellectual disability, and hypothalamic dysfunction, causing pituitary hormone deficiencies and hyperphagia, ultimately leading to obesity. PWS is most often caused by ... ...

    Abstract Prader-Willi syndrome (PWS) is a rare genetic condition characterized by hypotonia, intellectual disability, and hypothalamic dysfunction, causing pituitary hormone deficiencies and hyperphagia, ultimately leading to obesity. PWS is most often caused by the loss of expression of a cluster of genes on chromosome 15q11.2-13. Patients with Prader-Willi-like syndrome (PWLS) display features of the PWS phenotype without a classical PWS genetic defect. We describe a 46-year-old patient with PWLS, including hypotonia, intellectual disability, hyperphagia, and pituitary hormone deficiencies. Routine genetic tests for PWS were normal, but a homozygous missense variant NM_003097.3(
    Language English
    Publishing date 2021-06-07
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12060875
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant.

    van der Valk, Eline S / Kleinendorst, Lotte / Delhanty, Patric J D / van der Voorn, Bibian / Visser, Jenny A / van Haelst, M M / de Graaff, Laura C G / Huisman, Martin / White, Anne / Ito, Shosuke / Wakamatsu, Kazumasa / de Rijke, Yolanda B / van den Akker, Erica L T / Iyer, Anand M / van Rossum, Elisabeth F C

    The Journal of clinical endocrinology and metabolism

    2022  Volume 107, Issue 9, Page(s) e3699–e3704

    Abstract: Objective: Patients with pro-opiomelanocortin (POMC) defects generally present with early-onset obesity, hyperphagia, hypopigmentation and adrenocorticotropin (ACTH) deficiency. Rodent models suggest that adequate cleavage of ACTH to α-melanocortin- ... ...

    Abstract Objective: Patients with pro-opiomelanocortin (POMC) defects generally present with early-onset obesity, hyperphagia, hypopigmentation and adrenocorticotropin (ACTH) deficiency. Rodent models suggest that adequate cleavage of ACTH to α-melanocortin-stimulating hormone (α-MSH) and desacetyl-α-melanocortin-stimulating hormone (d-α-MSH) by prohormone convertase 2 at the KKRR region is required for regulating food intake and energy balance.
    Methods: We present 2 sisters with a novel POMC gene variant, leading to an ACTH defect at the prohormone convertase 2 cleavage site, and performed functional studies of this variant.
    Results: The patients had obesity, hyperphagia and hypocortisolism, with markerly raised levels of ACTH but unaffected pigmentation. Their ACTH has reduced potency to stimulate the melanocortin (MC) 2 receptor, explaining their hypocortisolism.
    Conclusion: The hyperphagia and obesity support evidence that adequate cleavage of ACTH to α-MSH and d-α-MSH is also required in humans for feeding control.
    MeSH term(s) Adrenal Insufficiency ; Adrenocorticotropic Hormone ; Humans ; Hyperphagia/genetics ; Obesity/genetics ; Pro-Opiomelanocortin/genetics ; Proprotein Convertase 2 ; alpha-MSH
    Chemical Substances alpha-MSH (581-05-5) ; Pro-Opiomelanocortin (66796-54-1) ; Adrenocorticotropic Hormone (9002-60-2) ; Proprotein Convertase 2 (EC 3.4.21.94)
    Language English
    Publishing date 2022-07-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgac342
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study.

    van Abswoude, Denise H / Pellikaan, Karlijn / Rosenberg, Anna G W / Davidse, Kirsten / Coupaye, Muriel / Høybye, Charlotte / Markovic, Tania P / Grugni, Graziano / Crinò, Antonino / Caixàs, Assumpta / Poitou, Christine / Mosbah, Helena / Weir, Tessa / van Vlimmeren, Leo A / Rutges, Joost P H J / De Klerk, Luuk W L / Zillikens, M Carola / van der Lely, Aart J / de Graaff, Laura C G

    The Journal of clinical endocrinology and metabolism

    2022  Volume 108, Issue 1, Page(s) 59–84

    Abstract: Context: Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. ... ...

    Abstract Context: Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity.
    Objective: To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS.
    Methods: We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature.
    Results: We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below -2.5) and 143 (54%) had osteopenia (T-score -1 to -2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified.
    Conclusion: Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients.
    MeSH term(s) Humans ; Adult ; Male ; Female ; Prader-Willi Syndrome/complications ; Prader-Willi Syndrome/epidemiology ; Prader-Willi Syndrome/drug therapy ; Bone Density ; Scoliosis/etiology ; Scoliosis/complications ; Muscle Hypotonia ; Retrospective Studies ; Osteoporosis/etiology ; Osteoporosis/complications ; Hypogonadism/etiology ; Hypogonadism/complications ; Fractures, Bone/epidemiology ; Fractures, Bone/etiology ; Growth Hormone/therapeutic use
    Chemical Substances Growth Hormone (9002-72-6)
    Language English
    Publishing date 2022-10-04
    Publishing country United States
    Document type Multicenter Study ; Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgac556
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Risk factors for stillbirth in a socio-economically disadvantaged urban Australian population.

    de Graaff, E C / Wijs, L A / Leemaqz, S / Dekker, G A

    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

    2017  Volume 30, Issue 1, Page(s) 17–22

    Abstract: Introduction: Several risk factors for stillbirth have been extensively investigated. Some risk factors are more common in socio-economically disadvantaged regions. The aim of this study was to identify risk factors for stillbirth in the Northern ... ...

    Abstract Introduction: Several risk factors for stillbirth have been extensively investigated. Some risk factors are more common in socio-economically disadvantaged regions. The aim of this study was to identify risk factors for stillbirth in the Northern suburbs of Adelaide, one of the most socio-economically disadvantaged urban areas in Australia.
    Material and methods: A retrospective case control study (two controls per case) of all women with a singleton pregnancy resulting in a stillbirth during the decade 2002-2012.
    Results: One hundred and thirty stillbirths were registered over these 10 years. Using univariate analysis, the following risk factors were identified: obesity ≥40 body mass index (BMI) (OR 4.75), non-Caucasian ethnicity (odds ratio [OR] 2.737), pre-existing diabetes (p <0.000), polycystic ovary syndrome (PCOS) (OR 5.250), in vitro fertilisation (IVF) (OR 4.000), booking systolic blood pressure (SBP) ≥ 140 (OR 5.000) and booking diastolic blood pressure (DBP) ≥ 80 (OR 3.111). Many of these factors have complex interrelationships. Multivariate analysis identified the following independent risk factors: BMI ≥40 (OR 3.940), ethnic minorities (mainly indigenous Australians) (OR 2.255) and social issues (OR 3.079). PCOS had an independent effect to some extent, but this was clearly confounded by BMI.
    Conclusion: These Australian data confirm the presence of several potentially modifiable risk factors for stillbirth, within this socio-economically disadvantaged region. Modifying these risk factors, in particular obesity, is a big challenge not only for maternity and primary care providers, but for overall society.
    MeSH term(s) Adult ; Case-Control Studies ; Female ; Humans ; Models, Statistical ; Multivariate Analysis ; Pregnancy ; Retrospective Studies ; Risk Factors ; Socioeconomic Factors ; South Australia/epidemiology ; Stillbirth/epidemiology ; Urban Health/statistics & numerical data ; Vulnerable Populations
    Language English
    Publishing date 2017-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 2077261-0
    ISSN 1476-4954 ; 1057-0802 ; 1476-7058
    ISSN (online) 1476-4954
    ISSN 1057-0802 ; 1476-7058
    DOI 10.3109/14767058.2016.1163678
    Database MEDical Literature Analysis and Retrieval System OnLINE

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