35,263 results match your criteria: "Medical Center Utrecht[Affiliation]"

Introduction: The transition from paediatric to adult health care (i.e., 'health care transition') poses many challenges for youth with medical complexity (YMC) and their families.

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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Genet Med

December 2024

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:

Article Synopsis
  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
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Psychosocial and cognitive determinants of 10-year depressive symptom trajectories in patients with cardiovascular disease: The SMART-Medea Study.

J Affect Disord

December 2024

Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht and Utrecht University, Utrecht, the Netherlands; Amsterdam Public Health, Aging & Later life, and Personalized Medicine, Amsterdam, the Netherlands; Amsterdam Neuroscience, Neurodegeneration, and Mood, Anxiety, Psychosis, Stress, and Sleep, Amsterdam, the Netherlands; Amsterdam UMC, University of Amsterdam, Department of General Practice, Meibergdreef 9, Amsterdam, the Netherlands. Electronic address:

Background: Middle-aged and older adults presenting clinically relevant depressive symptoms are often undiagnosed. Understanding the determinants of late-life depressive symptoms could improve prognosis. Further, individuals with manifest cardiovascular disease (CVD) are at an increased risk of depression.

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When health professions learners do not meet standards on assessments, educators need to share this information with the learners and determine next steps to improve their performance. Those conversations can be difficult, and educators may lack confidence or skill in holding them. For clinician-educators with experience sharing challenging news with patients, using an analogy from clinical settings may help with these conversations in the education context.

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Background: Lebrikizumab demonstrated statistically significant improvements in patients with moderate-to-severe atopic dermatitis at week 16 with a durable response up to week 52.

Objective: To investigate the efficacy of lebrikizumab-treated patients at 52 weeks who did not achieve the ADvocate1 and ADvocate2 protocol-defined response criteria (≥75% improvement in the Eczema Area and Severity Index [EASI 75] or Investigator Global Assessment [IGA] 0/1 with ≥2-point improvement without rescue medication) after 16 weeks.

Methods: This analysis includes observed data for patients who received lebrikizumab every 2 weeks during the induction period, did not achieve the protocol-defined response, and subsequently received open-label lebrikizumab treatment.

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Syndromic Retinitis Pigmentosa.

Prog Retin Eye Res

December 2024

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.

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Age- and sex-related differences in social competence and emotion labeling in pre-adolescence.

Dev Cogn Neurosci

December 2024

Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Experimental Psychology, Helmholtz Institute, Utrecht University, Utrecht, the Netherlands.

Identification of facial expressions is important to navigate social interactions and associates with developmental outcomes. It is presumed that social competence, behavioral emotion labeling and neural emotional face processing are related, but this has rarely been studied. Here, we investigated these interrelations and their associations with age and sex, in the YOUth cohort (1055 children, 8-11 years old).

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Objective: During the COVID-19 pandemic, dynamic factors such as governmental policies, improved treatment and prevention options and viral mutations changed the incidence of outcomes and possibly changed the relation between predictors and outcomes. The aim of the present study was to assess whether the dynamic context of the pandemic influenced the predictive performance of mortality predictions over time in older patients hospitalised for COVID-19.

Study Design And Setting: The COVID-OLD study, a multicentre cohort study in the Netherlands, included COVID-19 patients aged 70 years and older hospitalised during the first (early 2020), second (late 2020), third (late 2021) or fourth wave (early 2022).

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Background: HIV indicator condition-guided testing is recommended by guidelines to identify undiagnosed HIV infections. However, general practitioners (GPs) frequently see patients for indicator conditions without testing them for HIV. The aim of this study was to evaluate whether implementing HIV teams, using trained GP ambassadors, promoted local HIV indicator condition-guided testing practices in urban GP centers in the Netherlands.

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Background: Nosocomial pneumonia is common in trauma patients and associated with an adverse prognosis. We recently externally validated and recalibrated an existing formula to predict nosocomial pneumonia risk. Identifying more potential predictors could aid in a more accurate prediction of nosocomial pneumonia risk in level-1 trauma patients.

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Schizophrenia (SCZ), bipolar (BD) and major depression disorder (MDD) are severe psychiatric disorders that are challenging to treat, often leading to treatment resistance (TR). It is crucial to develop effective methods to identify and treat patients at risk of TR at an early stage in a personalized manner, considering their biological basis, their clinical and psychosocial characteristics. Effective translation of theoretical knowledge into clinical practice is essential for achieving this goal.

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In same-day radioembolization, 99mTc-MAA SPECT/CT, 90Y radioembolization, and post-treatment 90Y SPECT/CT procedures are conducted on the same-day, resulting in a dual-isotope environment of 90Y and 99mTc during post-treatment imaging. This study aimed to quantify the impact of 99mTc on 90Y bremsstrahlung-SPECT/CT image quality and to establish an optimised imaging protocol for both clinical practice, and with advanced reconstruction techniques. Utilising a NEMA IQ phantom, contrast recovery coefficients (CRCs) were measured to evaluate the 90Y image quality degradation caused by 99mTc.

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Background: Orbital rhabdomyosarcoma (RMS) is often limited to the orbital cavity and has a favorable prognosis. In some cases, the tumor can erode the orbital bone and behave as a parameningeal RMS (PM-RMS); thus, it is treated more intensively. However, the current protocols do not provide any guidance on how to consider different grades of bone erosion (BE) that can vary widely, hampering a uniform classification and the subsequent treatment assignment.

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Air pollution exposure disparities among ethnic groups in high-income countries: A scoping review.

Environ Res

December 2024

Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

Background: The adverse health effects of air pollution are well-established. Previous reviews have highlighted disparities in air pollution exposure between minoritized ethnic groups and majoritized ethnic groups. However, these reviews primarily focused on proximity to pollution sources rather than objectively measured concentrations.

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Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples.

J Clin Invest

December 2024

Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.

Lysosomes are implicated in a wide spectrum of human diseases including monogenic lysosomal storage disorders (LSDs), age-associated neurodegeneration and cancer. Profiling lysosomal content using tag-based lysosomal immunoprecipitation (LysoTagIP) in cell and animal models has substantially moved the field forward, but studying lysosomal dysfunction in human patients remains challenging. Here, we report the development of the 'tagless LysoIP' method, designed to enable the rapid enrichment of lysosomes, via immunoprecipitation, using the endogenous integral lysosomal membrane protein TMEM192, directly from clinical samples and human cell lines (e.

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Article Synopsis
  • In patients with acute coronary syndromes and multivessel disease, immediate and staged complete revascularization showed similar outcomes at 2 years regarding combined health events like mortality and heart attacks.
  • A total of 1,525 patients participated, and follow-up data were collected from 97.6% of them.
  • The only notable difference was a lower rate of myocardial infarction in the immediate complete revascularization group compared to the staged group, suggesting it might be a slightly better option in preventing heart attacks.
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Background: Liquid biopsies offer less burdensome sensitive disease monitoring. Bone marrow (BM) metastases, common in various cancers including neuroblastoma, is associated with poor outcomes. In pediatric high-risk neuroblastoma most patients initially respond to treatment, but in the majority the disease recurs with only 40% long-term survivors, stressing the need for more sensitive detection of disseminated disease during therapy.

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Background: For the development and validation of dynamic treatment modalities and processes on the MR-linac, independent measurements should be performed that validate dose delivery and linac behavior at a high temporal resolution. To achieve this, a detector with both high temporal and spatial resolution is necessary.

Purpose: This study investigates the suitability of a Delta4 Phantom+ MR (Delta4) detector array for time-resolved dosimetry in the 1.

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Colorectal cancer (CRC) is a significant contributor to cancer-related mortality, emphasizing the need for advanced biomarkers to guide treatment. As part of an international consortium, we previously categorized CRCs into four consensus molecular subtypes (CMS1-CMS4), showing promise for outcome prediction. To facilitate clinical integration of CMS classification in settings where formalin-fixed paraffin-embedded (FFPE) samples are routinely used, we developed NanoCMSer, a NanoString-based CMS classifier using 55 genes.

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A post hoc analysis of maternally derived antibodies at birth and age 2 months following second trimester maternal Tdap vaccination between 20 and 24 weeks' gestational age (GA) showed a faster decay rate of Tdap-related immunoglobulin G in early preterms born before 32 weeks' GA compared with moderate-to-late preterms and full-terms. This is different from previous studies and merits further research.

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Background And Aims: Sub-Saharan Africa drives global HIV-related mortality, and patients continuously present with advanced HIV disease (AHD) at diagnosis. We describe prevalence, predictors, and treatment outcomes in HIV clients with AHD.

Methods: We systematically reviewed PUBMED, SCOPUS, Web of Science, JSTOR, and CINAHL for relevant studies conducted in Sub-Saharan Africa from 2010 to 2022.

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Background: Left atrial (LA) strain reflects not only LA function but also systolic and diastolic left ventricular function. We therefore hypothesize that LA strain may be a comprehensive predictor of heart failure related endpoints after ST-elevation myocardial infarction (STEMI). We aim to assess the impact of LA reservoir strain on the long-term prognosis following ST-elevation myocardial infarction (STEMI).

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