Publications by authors named "S G Van Duinen"
Background: To reveal clinical findings related to metastatic conjunctival melanoma.
Methods: 10 ophthalmic oncology centres (9 countries and 4 continents) shared data to create a large clinical case series. The main outcome measures were the incidence and cumulative risk of systemic metastasis, study mortality rates and Kaplan-Meier patient mortality after developing conjunctival melanoma metastasis.
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.*
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.
View Article and Find Full Text PDFArticle 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.
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.