Publications by authors named "Essen A"

Background: Collaboration between Speech and Language Therapists (SLTs) and parents is considered best practice for children with developmental disorders. However, such collaborative approach is not yet implemented in therapy for children with developmental language disorders (DLD) in the Netherlands. Improving Dutch SLTs' collaboration with parents requires insight in factors that influence the way SLTs work with parents.

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There is a lack of effective interventions available for Pediatric Physical Therapists (PPTs) to promote a physically active lifestyle in children with physical disabilities. Participatory design methods (co-design) may be helpful in generating insights and developing intervention prototypes for facilitating a physically active lifestyle in children with physical disabilities (6-12 years). A multidisciplinary development team of designers, developers, and researchers engaged in a co-design process-together with parents, PPTs, and other relevant stakeholders (such as the Dutch Association of PPTs and care sports connectors).

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The use of fetal bovine serum (FBS) in animal cell culture media is widely spread since it provides a broad spectrum of molecules that are known to support cell attachment and growth. However, the harvest and collection procedures of FBS raise ethical concerns and serum is an ill-defined and expensive component. This is especially problematic when it comes to regulatory approval for food applications like cultured meat.

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An abundant and growing supply of digital health applications (apps) exists in the commercial tech-sector, which can be bewildering for clinicians, patients, and payers. A growing challenge for the health care system is therefore to facilitate the identification of safe and effective apps for health care practitioners and patients to generate the most health benefit as well as guide payer coverage decisions. Nearly all developed countries are attempting to define policy frameworks to improve decision-making, patient care, and health outcomes in this context.

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Purpose: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts.

Methods: We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers.

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The demand for meat is expected to exceed production capacity by livestock in the coming decennia. Therefore, cultured beef might be a viable alternative to traditional livestock-derived beef. One of the problems however is the sustainability of cultured beef through the use of fetal bovine serum.

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SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in the SETD1B gene which may be used as an epigenetic marker supporting the diagnosis of syndromic SETD1B-related diseases.

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Purpose: The roles of folate and vitamin B12 in prostate cancer (PCa) or breast cancer (BC) development are unclear. We investigated their roles using the prospective Swedish Apolipoprotein MOrtality RISk (AMORIS) study.

Methods: 8,783 men and 19,775 women with vitamin B12 and folate serum measurements were included.

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Article Synopsis
  • RTTN mutations are linked to various brain malformations, including polymicrogyria and primary microcephaly, but the exact role of the rotatin protein in brain development is not fully understood.
  • Through clinical studies and cell biological analyses, researchers identified a core phenotype characterized by intellectual disability, short stature, and distinct brain malformations, emphasizing that protein function, rather than just mRNA levels, impacts severity.
  • Findings revealed that rotatin is essential for maintaining cell cycle regulation and primary cilia structure, with mutations causing severe mitotic issues and potential depletion of neuronal progenitors, which could explain the associated microcephaly.
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Determining pathogenicity of genomic variation identified by next-generation sequencing techniques can be supported by recurrent disruptive variants in the same gene in phenotypically similar individuals. However, interpretation of novel variants in a specific gene in individuals with mild-moderate intellectual disability (ID) without recognizable syndromic features can be challenging and reverse phenotyping is often required. We describe 24 individuals with a de novo disease-causing variant in, or partial deletion of, the F-box only protein 11 gene (FBXO11, also known as VIT1 and PRMT9).

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PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2 is a component of the polycomb repressive complex 1 (PRC1), a multiprotein complex which controls gene silencing through histone modification and chromatin remodelling. We report the phenotypic characterization of 13 patients (11 unrelated individuals and a pair of monozygotic twins) with missense mutations in PCGF2.

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Article Synopsis
  • Next-generation sequencing has helped uncover genetic causes of various intellectual disabilities, revealing key mutations in the WASF1 gene in five individuals with moderate to profound disabilities, along with autism and seizures.* -
  • The identified mutations include three specific de novo truncating mutations in the WASF1 gene that likely disrupt its function related to actin polymerization.* -
  • Functional studies demonstrated that a specific mutation resulted in a truncated version of WASF1, leading to defects in actin remodeling in affected individuals, supporting the role of WASF1 mutations in this rare intellectual disability.*
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The application of economic incentives to providers in health care governance is debated. Advocates argue that it drives efficiency and improvement, opponents claim that it leads to unintended consequences for patients and professionals. Research shows that incentives can increase well-defined activities and targets, but there is a lack of substantial evidence that applications in health care lead to desired outcomes.

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In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS.

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De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID). Here, we present the clinical assessment of 15 individuals and report novel de novo missense variants within the kinase domain of CDK13. Furthermore, we describe 2 nonsense variants and a recurrent frame-shift variant.

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Background: Interpretation of missense variants can be especially difficult when the variant is also found in control populations. This is what we encountered for the c.992G>A (p.

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Individuals with Duchenne muscular dystrophy (DMD) often exhibit delayed motor and cognitive development, including delayed onset of ambulation. Data on age when loss of independent ambulation occurs are well established for DMD; however, age at onset of walking has not been well described. We hypothesize that an effective medication given in early infancy would advance the age when walking is achieved so that it is closer to age-matched norms, and that this discrete event could serve as the primary outcome measure in a clinical trial.

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SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS.

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While there is a proliferation of numerical data in healthcare, little attention has been paid to the role of numbers in constituting the healthcare reality they are intended to depict. This study explores the performativity of numbers in the microlevel management of rheumatoid disease. We draw on a study of patients' and physicians' use of the numbers in the Swedish Rheumatology Quality Registry, conducted between 2009 and 2014.

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Background: The Stanford Health Assessment Questionnaire-Disability Index (HAQ) is widely used to measure functional ability in persons with Rheumatoid Arthritis (RA). The instrument was developed with limited involvement from persons with RA, and their perception of the instrument has not been studied in depth. The aim of this study was to explore how persons with RA experience the use of the HAQ in care.

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Purpose Policy makers are applying market-inspired competition and financial incentives to drive efficiency in healthcare. However, a lack of knowledge exists about the process whereby incentives are filtered through organizations to influence staff motivation, and the key role of managers is often overlooked. The purpose of this paper is to explore the strategies managers use as intermediaries between financial incentives and the individual motivation of staff.

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For several tissue engineering applications, in particular food products, scaling up culture of mammalian cells is a necessary task. The prevailing method for large scale cell culture is the stirred tank bioreactor where anchor dependent cells are grown on microcarriers suspended in medium. We use a spinner flask system with cells grown on microcarriers to optimize the growth of bovine myoblasts.

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Background: Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors.

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Research in sociology suggests that the effects of standards are not nearly as straightforward or as homogenising as they first appear. The present study extends these insights by demonstrating how even standards designed simply to collect data can produce extensive and unanticipated effects in medical fields as their uses evolve across actors and contexts. We draw on an embedded case study exploring the multifaceted consequences of the use of a practice-driven voluntary documentation standard: the Swedish rheumatology quality registry from 1995-2014.

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