Publications by authors named "Sjoerd G Van Duinen"

Article Synopsis
  • A new recessive genetic disorder called NIT1-small vessel disease has been identified, caused by variants in the NIT1 gene that lead to loss of function.* -
  • Researchers analyzed seven patients using various techniques like exome sequencing and MRI, discovering significant brain abnormalities and movement disorders primarily presenting in mid-adulthood.* -
  • The disease is characterized by a specific set of symptoms including dilated perivascular spaces in the basal ganglia and intracerebral hemorrhages, highlighting its unique features among cerebral small vessel diseases.*
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Fetal hydrops as detected by prenatal ultrasound usually carries a poor prognosis depending on the underlying aetiology. We describe the prenatal and postnatal clinical course of two unrelated female probands in whom heterozygous missense variants in the planar cell polarity gene were detected using exome sequencing. Using several in vitro assays, we show that the p.

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Article Synopsis
  • Glioblastoma patients have a high risk of developing venous thromboembolism (VTE), and researchers aim to understand the genetic and signaling factors that contribute to this risk.
  • Using RNA sequencing, researchers compared gene expression profiles of glioblastoma patients with VTE to those without and identified 1246 differentially expressed genes, including GLI1, which is linked to the Sonic Hedgehog signaling pathway.
  • The findings suggest that the Sonic Hedgehog pathway may play a significant role in the risk of VTE among glioblastoma patients, particularly those with certain tumor subtypes.
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Purpose: Heavy pigmentation is known to be a prognostic risk factor in uveal melanoma (UM). We analyzed whether genetic tumor parameters were associated with tumor pigmentation and whether pigmentation should be included in prognostic tests.

Design: Retrospective comparison of clinical, histopathological, and genetic features and survival in UM with different pigmentation.

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Background: Becker muscular dystrophy (BMD) is an X-linked disorder characterized by slow, progressive muscle damage and muscle weakness. Hallmarks include fibre-size variation and replacement of skeletal muscle with fibrous and adipose tissues, after repeated cycles of regeneration. Muscle histology can detect these features, but the required biopsies are invasive, are difficult to repeat and capture only small muscle volumes.

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Background And Objectives: Patients with glioblastoma have a high risk of developing venous thromboembolism (VTE). However, the role of underlying genetic risk factors remains largely unknown. Therefore, the aim of this study was to discover whether genetic aberrations in glioblastoma associate with VTE risk.

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Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much more severe phenotype with premature death, bi-allelic variants in LDB3 have not yet been reported. Here we identify biallelic loss-of-function variants in five unrelated cardiomyopathy families by next-generation sequencing.

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Article Synopsis
  • IDH1/2 wildtype (IDHwt) gliomas classified as lower-grade (WHO grade 2 and 3) with certain genetic mutations exhibit similar survival rates to IDHwt glioblastoma, leading to both being categorized as glioblastoma IDHwt by WHO 2021.
  • A study analyzed epilepsy in these two groups, focusing on the number of patients developing epilepsy, the timing of onset, and the treatment approaches used for managing seizures.
  • Results indicated that while the overall incidence of epilepsy is comparable, IDHwt hLGG patients experience earlier onset and longer diagnosis delays compared to IDHwt glioblastoma patients, suggesting differing clinical pathways for these glioma subtypes.
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Background: Glioblastoma patients are considered to be at high risk of venous thromboembolism (VTE) and major bleeding (MB), although reliable incidence estimates are lacking. Moreover, the risk of arterial thromboembolism (ATE) in these patients is largely unknown. Our aim was to assess the cumulative incidence, predictors, and prognostic impact of VTE, ATE, and MB on subsequent complications and mortality.

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Objective: To assess oncological and ophthalmological outcomes after international referral of uveal melanoma patients for proton therapy.

Materials And Methods: This is a retrospective study among Dutch uveal melanoma patients who were treated in Switzerland with 60.0 CGE proton therapy (in 4 fractions) from 1987 to 2019.

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Purpose: Individuals with gray, blue, or green eyes have a higher chance of developing uveal melanoma (UM) than those with brown eyes. We wondered whether iris pigmentation might be related not only to predisposition to UM but also to its behavior; therefore, we compared the clinical, histopathologic, and genetic characteristics of UM between eyes with different colors.

Design: We determined iris color in a large cohort of patients enucleated for UM.

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Purpose: To employ an off-resonance saturation method to measure the mineral-iron pool in the postmortem brain, which is an endogenous contrast agent that can give information on cellular iron status.

Methods: An off-resonance saturation acquisition protocol was implemented on a 7 Tesla preclinical scanner, and the contrast maps were fitted to an established analytical model. The method was validated by correlation and Bland-Altman analysis on a ferritin-containing phantom.

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Background: Evidence indicates that inflammatory processes are involved in radicular pain as well as in resorption of herniated disc tissue. Furthermore there are indications that the presence of vertebral end plate pathology (Modic changes; MC) is associated with a negative effect on inflammation. It is hypothesized that in patients with MC, the (possibly bacterial induced) inflammation will be accompanied by pro inflammatory cytokines that worsen the outcome, and that in patients without MC, the inflammation is accompanied by cytokines that induce a resorption process to accelerate recovery.

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Background: To relate conjunctival melanoma characteristics to local control.

Methods: Retrospective, registry-based interventional study with data gathered from 10 ophthalmic oncology centres from 9 countries on 4 continents. Conjunctival melanoma patients diagnosed between January 2001 and December 2013 were enrolled in the study.

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Background/objectives: To evaluate the management of conjunctival melanoma with local excision and adjuvant brachytherapy.

Subjects/methods: Data of all patients who received local excision and adjuvant brachytherapy for conjunctival melanoma between 1999 and 2016 in a Dutch national referral centre were reviewed. A protocol with Sr-90 was used until 2012, a protocol with Ru-106 was used hereafter.

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Purpose: A subgroup of uveal melanoma (UM) gives rise to metastases at a late stage. Our objective was to identify patient and tumor characteristics that are associated with UM-related death in patients who survived 5 years following enucleation.

Methods: A retrospective analysis was performed in 583 primary UM cases, enucleated at the Leiden University Medical Center between 1983 and 2013.

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T-staging of most eyelid malignancies includes the assessment of the integrity of the tarsal plate and orbital septum, which are not clinically accessible. Given the contribution of MRI in the characterization of orbital tumors and establishing their relations to nearby structures, we assessed its value in identifying different eyelid structures in 38 normal eyelids and evaluating tumor extension in three cases of eyelid tumors. As not all patients can receive an MRI, we evaluated those same structures on CT and compared both results.

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CADASIL is a vascular protein aggregation disorder caused by cysteine-altering NOTCH3 variants, leading to mid-adult-onset stroke and dementia. Here, we report individuals with a cysteine-altering NOTCH3 variant that induces exon 9 skipping, mimicking therapeutic NOTCH3 cysteine correction. The index came to our attention after a coincidental finding on a commercial screening MRI, revealing white matter hyperintensities.

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In Tables 3 and 4: In the first column and row, the text reads "Mixed model test (patients with Modic changes)". This should have been just "Mixed model". The complete correct Tables 3 and 4 are given below.

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Purpose: To investigate whether we can identify different patterns of inflammation in the aqueous humor of a uveal melanoma (UM)-containing eye, and whether these are related to prognosis.

Methods: Ninety samples of aqueous humor from UM-containing eyes were analyzed using a high-throughput multiplex immunoassay that enables simultaneous analysis of 92 predefined protein biomarkers. Cytokine expression was compared to clinical and histopathological characteristics.

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Article Synopsis
  • CADASIL is a disease linked to NOTCH3 that affects small blood vessels in the brain, characterized by GOM deposits in arteries; however, how these deposits form and affect disease progression is not well understood.
  • Researchers studied GOM deposits in genetically modified mice and human patients, discovering that these deposits are dynamic and grow larger and more complex as the mice age, which led to the creation of a new classification system.
  • Despite similarities in GOM stages between mice and humans, the mutant mice didn't develop the most severe GOM seen in patients, highlighting a lack of severe associated brain damage and cognitive deficits, suggesting the need for further research on GOM's role in CADASIL.
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Background: The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) has recommended that isocitrate dehydrogenase 1 and 2 wildtype (IDH1/2wt) diffuse lower-grade gliomas (LGGs) World Health Organization (WHO) grade II or III that present with (i) a telomerase reverse transcriptase promoter mutation (pTERTmt), and/or (ii) gain of chromosome 7 combined with loss of chromosome 10, and/or (iii) epidermal growth factor receptor (EGFR) amplification should be reclassified as diffuse astrocytic glioma, IDH1/2 wildtype, with molecular features of glioblastoma, WHO grade IV (IDH1/2wt astrocytomas WHO IV). This paper describes the overall survival (OS) of IDH1/2wt astrocytoma WHO IV patients, and more in detail patients with tumors with pTERTmt only.

Methods: In this retrospective multicenter study, we compared the OS of 71 IDH1/2wt astrocytomas WHO IV patients, with radiological characteristics of LGGs, with the OS of 197 IDH1/2wt glioblastoma patients.

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Purpose: To study the interaction between Modic changes (MC) and inflammation by macrophages in the disc, in relation to clinical symptoms before and after discectomy for lumbar disc herniation.

Methods: Disc tissue was embedded in paraffin and stained with haematoxylin and CD68. Subsequently, tissue samples were categorized for degree of inflammation.

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