Publications by authors named "M van Dooren"
Article Synopsis
- * The typical incident involves a 25-year-old male perpetrator targeting a 13-year-old girl, often occurring on public roads during summer afternoons, showing patterns similar to sexual assault victim demographics.
- * Despite high recidivism rates and concerns about escalation to more serious crimes, reported incidents decreased significantly over the study period, prompting discussions about offender treatment and prevention strategies.
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or 'wolframinopathies', exhibit a spectrum of ocular and systemic phenotypes, of which the autosomal recessive Wolfram syndrome has been the most extensively studied. AD mutations in WFS1 also cause various phenotypical changes including OA.
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- Genetic alterations play a crucial role in cancer development, highlighting the need for effective genetic counselling to support patient decision-making in EU Member States.
- A study of national legislation across 27 EU countries revealed that 22 have laws on genetic counselling, but practices and regulations differ significantly.
- Common barriers include workforce capacity and genetic literacy, with calls for better integration of genetic counsellors and updated laws to improve the overall practice.
Article Synopsis
- - The study analyzed 127 individuals from 16 medical centers across 6 countries to examine the relationship between TMPRSS3 gene variants and hearing loss, revealing 47 unique variants and their impact on hearing thresholds.
- - Individuals carrying missense variants showed different hearing loss progression rates and performance in speech recognition tests post-cochlear implant, with age at implantation being a critical factor.
- - This research represents the largest investigation into TMPRSS3 genotype-phenotype correlations, offering valuable insights for genetic counseling and developing new treatments for hearing loss.
Background: Treatment outcomes of incidental gallbladder cancer generally stem from tertiary referral centres, while many patients are initially diagnosed and managed in secondary care centres. Referral patterns of patients with incidental gallbladder cancer are poorly reported. This study aimed to evaluate incidental gallbladder cancer treatment in secondary centres, rates of referral to tertiary centres and its impact on survival.
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