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University Medical Center Utrecht.[Affi... Publications | LitMetric

34,996 results match your criteria: "University Medical Center Utrecht.[Affiliation]"

Rethinking phase 2 trials in amyotrophic lateral sclerosis.

Brain

December 2024

Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, 3584CX, The Netherlands.

There is a long history in amyotrophic lateral sclerosis (ALS) of promoting therapies based on Phase 2 data, which then fail in Phase 3 trials. Experience suggests that studies of 6 months in duration are too short, especially with function-based outcome measures. Multiplicity poses a serious threat to data interpretation, and strategies to impute missing data may not be appropriate for ALS where progression is always expected.

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Objectives: Cellular senescence and endothelial-to-mesenchymal transition (EndMT) are profibrotic cellular processes involved in systemic sclerosis (SSc), but how they respond to treatment is largely unknown.

Methods: Skin biopsies from diffuse cutaneous SSc (dcSSc) patients who underwent either autologous haematopoietic stem cell transplantation (aHSCT) or cyclophosphamide pulse (iv CYC) treatment were collected before and 6 months after randomisation in the Autologous Stem Cell Transplantation International Scleroderma (ASTIS) trial. The extent of fibrosis, inflammation, senescence, EndMT and tissue remodelling were examined in histopathology.

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In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

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Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions.

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Introduction And Objectives: Tralokinumab-a biological that specifically targets interleukin-13-is one of the newer advanced systemic treatments for patients with moderate-to-severe atopic dermatitis (AD). Although safety and efficacy have been shown in phase-III clinical trials, daily practice data are needed. Therefore, the aim of this study was to evaluate 28-week safety and effectiveness, serum proteins and total IgE levels in adult AD patients treated with tralokinumab in daily practice.

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Introduction: Tracheomalacia (TM) often occurs in children with oesophageal atresia (OA), leading to recurrent respiratory symptoms and in severe cases to blue spells or ultimately respiratory arrest. In some patients, a secondary posterior tracheopexy may then be indicated. This secondary surgery, as well as respiratory morbidity, may be prevented by performing a primary posterior tracheopexy (PPT) concurrent with primary OA correction.

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Purpose: Placement of zygomatic implants in the most optimal prosthetic position is considered challenging due to limited bone mass of the zygoma, limited visibility, length of the drilling path and proximity to critical anatomical structures. Augmented reality (AR) navigation can eliminate some of the disadvantages of surgical guides and conventional surgical navigation, while potentially improving accuracy. In this human cadaver study, we evaluated a developed AR navigation approach for placement of zygomatic implants after total maxillectomy.

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Introduction: There is a lack of real-world evidence on direct comparisons between COVID-19 vaccines in multiethnic low- and middle-income settings. Cancer patients have an impaired vaccine response due to the disease itself or the effects of treatment. Hence, identifying the best vaccine to use for cancer patients is important.

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Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may have a prenatal onset.

Methods: A meta-analysis of case reports was performed on individuals with genetically proven MoCD retrieved through a systematic review and in-house search.

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Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

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A European expert consensus surgical technique description for robotic hepatectomy.

Hepatobiliary Surg Nutr

December 2024

Department of Surgery, Cancer Center Amsterdam, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

The robotic platform enables surgeons to operate with a similar level of freedom and control as in open surgery, while still providing the patient with the benefits of a minimally invasive approach. More centres continue to adopt robotic liver surgery however standardized training materials and consensus on the surgical technique are currently lacking. The availability of a standardized surgical protocol could benefit the further dissemination of the robotic approach while promoting safe and effective operating techniques.

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Background And Purpose: Patients with cardiac implantable electronic devices (CIED patients) are often ineligible for online magnetic resonance-guided radiotherapy (MRgRT), most likely due to the absence of established guidelines. Existing radiotherapy (RT) and magnetic resonance imaging (MRI) guidelines offer an opportunity to construct MRgRT protocols, promoting equitable access. Our objective was to present such a workflow, share multi-institutional experiences treating CIED patients with MRgRT on a 1.

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Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, the gene that encodes Myomixer. We identified a homozygous truncating variant [c.

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Background: RECIST may not be optimal for assessing treatment response with current systemic regimens. We evaluated RECIST, morphologic, and pathologically documented response (pathological response) in patients with initially unresectable colorectal cancer liver-only metastases (CRLM).

Patients And Methods: Four hundred and eighty-nine patients from the phase III CAIRO5 trial were included who were treated with FOLFOX/FOLFIRI/FOLFOXIRI and bevacizumab or panitumumab.

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Objectives: Attrition due to adverse events and disease progression impacts the integrity and generalizability of clinical trials. The aim of this study is to provide evidence-based estimates of attrition for clinical trials in amyotrophic lateral sclerosis (ALS), and identify study-related predictors, through a comprehensive systematic review and meta-analysis.

Methods: We systematically reviewed the literature to identify all randomized, placebo-controlled clinical trials in ALS and determined the number of patients who discontinued the study per randomized arm.

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Article Synopsis
  • This study investigates early recurrence in patients with pancreatic ductal adenocarcinoma (PDAC) derived from intraductal papillary mucinous neoplasm (IPMN), aiming to identify predictors to help guide patient management.
  • The research found that early recurrence is defined as occurring within 10.5 months post-surgery, affecting 38% of patients who experienced recurrence, with CA19-9 levels and N2 disease being significant predictors.
  • Adjuvant chemotherapy showed a survival advantage only for high-risk patients, highlighting the importance of risk stratification for better treatment outcomes.
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Background:  Primary lateral sclerosis (PLS) is a rare motor neuron disease characterized by upper motor neuron degeneration, diagnosed clinically due to the absence of a (neuropathological) gold standard. Post-mortem studies, particularly TDP-43 pathology analysis, are limited.

Methods: This study reports on 5 cases in which the diagnostic criteria for PLS were met, but in which neuropathology findings showed (partially) conflicting results.

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Chemoresistance remains a long-standing challenge after cancer treatment. Over the last two decades, RNA interference (RNAi) has emerged as a gene therapy modality to sensitize cancer cells to chemotherapy. However, the use of RNAi, specifically small-interfering RNA (siRNA), is hindered by biological barriers that limit its intracellular delivery.

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Long Dosing Intervals of Parenteral Antiosteoporosis Medications and the Decrease in Societal Fracture Risk: A 11-Year Nationwide Population-Based Cohort Study.

Mayo Clin Proc

December 2024

Department of Pharmacy, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan; National Center for Geriatrics and Welfare Research, National Health Research Institutes, Yunlin County, Taiwan. Electronic address:

Objective: To evaluate the relationship between different dosing intervals of antiosteoporosis medications (AOMs) and the subsequent fracture risk among patients with newly initiated AOM therapies.

Patients And Methods: In a nationwide population-based cohort study based on Taiwan's National Health Insurance Research Database, osteoporosis patients with 50 years of age or older who newly initiated AOM from January 1, 2008, to December 31, 2018 (n=336,229) were included. We categorized AOMs into short dosing intervals (oral AOMs) or long dosing intervals (parenteral AOMs).

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Background: Patients with kidney failure undergoing dialysis often suffer from anemia. Iron deficiency, along with a shortage in erythropoietin, is a common cause. Peritoneal dialysis (PD) patients may have a different iron metabolism compared to hemodialysis (HD) patients.

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Cancer immunotherapies with antibodies blocking immune checkpoint molecules are clinically active across multiple cancer entities and have markedly improved cancer treatment. Yet, response rates are still limited, and tumour progression commonly occurs. Soluble and cell-bound factors in the tumour microenvironment negatively affect cancer immunity.

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Acute Respiratory Infections Fuel Cardiovascular Disease.

J Am Coll Cardiol

December 2024

Department of General Practice and Nursing Science, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address:

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Scope: The emergence of Post-COVID-19 Condition (PCC) following SARS-CoV-2 infection underscores the critical need for preparedness in addressing future Post-Acute Infection Syndromes (PAIS), particularly those linked to epidemic outbreaks. The lack of standardized clinical and epidemiological data during the COVID-19 pandemic has significantly hindered timely diagnosis and effective treatment of PCC, highlighting the necessity of pre-emptively standardizing data collection in clinical studies to better define and manage future PAIS. In response, the Cohort Coordination Board (CCB), a consortium of European-funded COVID-19 research projects, has reviewed data from PCC studies conducted by its members.

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Objectives: SARS-CoV-2 viral load could be an important parameter for transmission potential. Here, we use RT-qPCR cycle threshold (Ct) values as a proxy for viral load. We assess the effect of COVID-19 vaccination and prior infection status on Ct value, while accounting for the virus variant.

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